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PubMed2000

Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms.

Phosphoglycerate kinase (PGK) catalyses the transfer of the acylphosphate group of 1,3-diphosphoglycerate to ADP with formation of 3-phosphoglycerate and ATP in the terminal stage of the glycolytic pathway. Two young brothers are presented who both experienced muscle pain, cramps and stiffness shortly after beginning heavy exercise. After these episodes they noticed that the urine was dark brown, indicating rhabdomyolysis and myoglobinuria. The neurological examinations were without remarks. There was no lactate increase in the ischaemic forearm exercise test. Both had very low PGK levels in muscle, erythrocytes, leukocytes and fibroblasts. This is the first family with more than one affected case of PGK deficiency and exercise-induced stiffness, myalgia and rhabdomyolysis. The clinical manifestations may resemble myophosphorylase deficiency (McArdle's disease: glycogenosis Type V) and muscle phosphofructokinase deficiency (Tarui's disease: glycogenosis Type VII). PGK deficiency is inherited as an X-linked trait and may show other features such as mental retardation and/or haemolytic anaemia.

Adolescent↗
PubMed1980

A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing.

We have described 4 patients with progressive lower and upper motor neuron deficits, marked sensory loss in the legs, 'neurogenic bladder', and, in 2 of the 4, dementia. Autopsy of two revealed a profusion of microscopic bodies resembling corpora amylacea or Lafora bodies, but restricted to processes of neurons and astrocytes. Similar (but especially large) bodies were seen within axons of sural nerves taken at biopsy from the other two patients. A general term--'polyglucosan body'--is introduced to refer to these structures in all the circumstances in which they may occur, such as in Lafora's disease, in a syndrome of longstanding double athetosis, in some cases of amyotrophic lateral sclerosis, in type IV glycogenosis, in diabetic rats, and in the normal course of ageing. Except in type IV glycogenosis, the causes for accumulation of polyglucosan bodies are unknown. They may damage tissue by more than one mechanism--probably by impeding axonal flow and impairing perivascular diffusion of metabolites.

Aged↗
PubMed1998

Glycogen storage diseases of muscle.

Ten specific enzyme defects of glycogen metabolism affect skeletal muscle alone or in combination with other tissues. The newest addition to this group of disorders is the defect of aldolase A (glycogenosis type XII), a block in terminal glycolysis associated with myopathy and a hemolytic trait. The muscle glycogenoses cause two major syndromes, one characterized by exercise intolerance, cramps, and myoglobinuria, and the other dominated by fixed, often progressive weakness. This review considers sequentially recent advances in the following: clinical features or clinical variants, including a brief description of glycogenosis type XII; animal models, both spontaneous and genetically engineered; physiopathologic mechanisms, especially of the exercise intolerance and myoglobinuria; biochemical and molecular features--molecular defects are just beginning to be discovered for some glycogenoses (e.g. phosphorylase-b-kinase deficiency or branching enzyme deficiency), whereas they form long lists for others, such as acid maltase deficiency and myophosphorylase deficiency; and therapeutic approaches, including enzyme replacement and gene therapy.

Animals↗
PubMed1988

A family with pseudodeficiency of acid alpha-glucosidase.

A unique family is presented which consists of a patient with the juvenile muscular dystrophy form of glycogenosis type II and four healthy individuals, both parents and sisters, with low acid alpha-glucosidase activity. It was almost impossible to distinguish the homozygote from the heterozygous members by lymphocyte assay alone. In cultured skin fibroblasts, acid alpha-glucosidase activity measured with a synthetic substrate was less than 1% of the normal mean value in the patient and about 15% in the parents. The activity toward glycogen was not detectable in the patient and was about 30% of the normal mean value in the parents. These values are also lower than expected in heterozygotes. To explain these results properly, a new mutant allele of acid alpha-glucosidase is proposed. Both parents could be compound heterozygotes for the pseudodeficiency allele and the juvenile form of glycogenosis type II allele.

Adolescent↗
PubMed1979

Insulin and glucagon secretion in hepatic glycogenoses.

Insulin and glucagon secretion was investigated in ten patients with hepatic glycogenosis, types I and III, in order to understand the relationship between hypoglycemia and pancreatic function. In all patients, both oral glucose tolerance and intravenous arginine infusion tests revealed hypoinsulinemia. Decreased urinary C-peptide levels with standard food intake also supported hypofunction of pancreatic beta cells. On the contrary, the normal secretion pattern of glucagon in both types indicated in the arginine loading test, intact alpha cells in the pancreas. Persistent hypoinsulinism, which is apparently an adaptation to hypoglycemia, could be an important cause of nutritional dwarfism in both types of glycogenosis. The usefulness of the measurement of urinary C-peptide, which evaluates the pancreatic function and provides management for normal body growth, is discussed.

Blood Glucose↗
PubMed1974

Interrelations in the oxidative metabolism of free fatty acids, glucose, and glycerol in normal and hyperlipemic patients. A compartmental model.

Palmitate, glucose, and glycerol oxidation to CO(2) have been investigated in the fasted state in ten normal subjects and nine patients (six hyperlipoproteinemias, one xanthomatosis, and two glycogenosis) after intravenous injection of [1-(14)C]palmitate, [1-(14)C]glucose, or [1-(14)C]glycerol in tracer amounts. The specific activities and concentrations of plasma palmitate, glycerol, or glucose and expired CO(2) were measured at various intervals after the injection for a period of 24 h. All the studies were analyzed in terms of a multicompartment model describing the structure for each of the subsystems, the transfer of carbon label between subsystems, and the oxidation to CO(2). A bicarbonate subsystem was also included in the model to account for its role in shaping the CO(2) curves. All the CO(2) activity following a palmitate injection could be accounted for by a direct oxidative pathway from plasm FFA with the addition of a 20-min delay compartment. The same also applied to glucose, except that the delay compartment had a mean time of about 150 min. Only about a third of the injected glycerol was directly oxidized to CO(2) from plasma; the delay time was about 4 min. Most of the remainder was converted to glucose. In normals about 45% of the FFA is oxidized to CO(2) directly. This constitutes about 30% of the total CO(2) output. In hyperlipemia the CO(2) output is nearly unchanged and the contribution from FFA is nearly the same. There is a considerable increase (factor of 2), however, in FFA mobilization, most of which is probably diverted to triglyceride synthesis. The glucose and glycerol subsystems are roughly the same in normals and hyperlipemics. About 50% of glucose is oxidized by the direct pathways which accounts for about 35% of the CO(2) output. Glycerol accounts for only 1.5% of the CO(2) produced. Major changes occurred in the glycerol and glucose subsystems in glycogenosis. The changes are consistent with the known deficiency in glucose-6-phosphatase in this disorder. There is a considerable reduction (factor of 2 or more) in the release of glucose to plasma (gluconeogenesis) and in the conversion of glycerol to glucose. Despite the integration of the kinetics of the glucose, glycerol, and FFA subsystems over a 24-h period, 36% of the CO(2) production was still unaccounted for in normals and 50% in hyperlipemics. Thus, some of the carbon must wind up in very slowly turning-over pools which supply CO(2) through subsystems not covered in these studies (triglycerides, glycogen, amino acids, etc.). All the modeling was carried out with the aid of the SAAM25 computer program.

Adolescent↗
PubMed1983

Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency.

Human phosphofructokinase (PFK; EC 2.7.1.11) exists in tetrameric isozymic forms. Muscle and liver contain the homotetramers M4 and L4, whereas erythrocytes contain five isozymes composed of M (muscle) and L (liver) subunits, i.e., M4, M3L, M2L2, ML3, and L4. Inherited defects of erythrocyte PFK are usually partial and are described in association with heterogeneous clinical syndromes. To define the molecular basis and pathogenesis of this enzymopathy, we investigated four unrelated individuals manifesting myopathy and hemolysis (glycogenosis type VII), isolated hemolysis, or no symptoms at all. The three symptomatic patients showed high-normal hemoglobin levels, despite hemolysis and early-onset hyperuricemia. They showed total lack of muscle-type PFK and suffered from exertional myopathy of varying severity. In the erythrocytes, a metabolic crossover was evident at the PFK step: the levels of hexose monophosphates were elevated and those of 2,3-diphosphoglycerate (2,3-DPG) were depressed, causing strikingly increased hemoglobin-oxygen affinity. In all cases, the residual erythrocyte PFK consisted exclusively of L4 isozyme, indicating homozygosity for the deficiency of the catalytically active M subunit. However, presence of immunoreactive M subunit was shown in cultured fibroblasts by indirect immunofluorescence with monoclonal anti-M antibody. The fourth individual was completely asymptomatic, had normal erythrocyte metabolism, and had no evidence of hemolysis. His residual erythrocyte PFK showed a striking decrease of the L4, ML3, and M2L2 isozymes, secondary to a mutant unstable L subunit. Identical alterations of erythrocyte PFK were found in his asymptomatic son, indicating heterozygosity for the mutant unstable L subunit in this kindred. These studies show that, except for the varying severity of the myopathic symptoms, glycogenosis type VII has highly uniform clinical and biochemical features and results from homozygosity for mutant inactive M subunit(s). The absence of anemia despite hemolysis may be explained by the low 2,3-DPG levels. The hyperuricemia may result from hyperactivity of the hexose monophosphate shunt. In contrast, the clinically silent carrier state results from heterozygosity for mutant M or L subunit. Of the two, the M subunit appears to be more critical for adequate glycolytic flux in the erythrocyte, since its absence is correlated with hemolysis.

Adult↗
PubMedDate not supplied

Effect of granulocyte-colony stimulating factor in glycogen storage disease type Ib.

Five children with glycogen storage disease type Ib (glycogenosis Ib), a metabolic defect associated with neutropenia and impairment of neutrophil function, were treated with granulocyte colony stimulating factor, a haemopoietic growth factor that induces a significant increase in polymorphonuclear leucocyte count in vivo. Recurrent bacterial or fungal infections were recorded in the three patients who had very low polymorphonuclear leucocyte counts. Experience at this centre indicates that the absolute number of polymorphonuclear leucocytes is more important than the alteration of their metabolic function in determining the susceptibility of the patients to infection. Granulocyte colony stimulating factor was effective at increasing polymorphonuclear leucocyte numbers (and restored function to some extent) in patients with glycogenosis Ib. This drug might be beneficial in cases of severe infection, in glycogenesis Ib patients with neutropenia.

Bacterial Infections↗
PubMed1983

Generalized glycogen storage disease in Japanese quail (Coturnix coturnix japonica).

Two Japanese quail which were incapable of wing movement and three normal quail were examined by histological and ultrastructural methods. The diseased birds had glycogen deposits in their skeletal muscle, cardiac muscle, smooth muscle, and nerve cells of the brain and spinal cord. According to the distribution of the lesions and the characteristics of the deposited glycogen, the diseased birds had glycogenosis which was analogous to type II found in man. The usefulness of this disease as a model for glycogenosis in man is discussed.

Adult↗
PubMed2002

Histopathological study of intrahepatic islets transplanted in the nonhuman primate model using edmonton protocol immunosuppression.

While islet cell transplantation is a promising way to restore insulin independence to patients with type I diabetes mellitus, a detailed histological analysis of the transplanted, intraportal islets has not yet been reported. Rhesus macaques underwent total pancreatectomy, then had allogeneic isolated islets infused into their portal vein, followed by daclizumab, tacrolimus, and sirolimus to prevent islet rejection. Islets were evenly distributed among the liver lobes. Liver sections from a primate given allogeneic islets 5 d earlier did not display any islet capillary formation, whereas intrahepatic islets transplanted 30 and 90 d before euthanasia showed an abundant capillary supply. Localized hepatocellular glycogenosis was observed surrounding the islets in a primate with functioning islets 7 months post transplant. Liver sections from a primate that rejected islets transplanted 2 months prior displayed only islet remnants with prominent local lymphohistiocytic inflammation and an occasional capillary. We conclude that islets develop an abundant vascular supply within 30 d following transplant and because capillaries persist even following rejection, that the vascular cells are likely from the recipient. While transplanted islets were not vascularized early post transplant, the primates remained insulin independent. The long-term consequence of islets in the liver, marked by the glycogenosis, remains unknown and warrants further study.

Animals↗
PubMed2001

Surprises of genetic engineering: a possible model of polyglucosan body disease.

BACKGROUND: The authors previously reported the generation of a knockout mouse model of Pompe disease caused by the inherited deficiency of lysosomal acid alpha-glucosidase (GAA). The disorder in the knockout mice (GAA-/-) resembles the human disease closely, except that the clinical symptoms develop late relative to the lifespan of the animals. In an attempt to accelerate the course of the disease in the knockouts, the authors increased the level of cytoplasmic glycogen by overexpressing glycogen synthase (GSase) or GlutI glucose transporter. METHODS: GAA-/- mice were crossed to transgenic mice overexpressing GSase or GlutI in skeletal muscle. RESULTS: Both transgenics on a GAA knockout background (GS/GAA-/- and GlutI/GAA-/-) developed a severe muscle wasting disorder with an early age at onset. This finding, however, is not the major focus of the study. Unexpectedly, the mice bearing the GSase transgene, but not those bearing the GlutI transgene, accumulated structurally abnormal polysaccharide (polyglucosan) similar to that observed in patients with Lafora disease, glycogenosis type IV, and glycogenosis type VII. Ultrastructurally, the periodic acid-Schiff (PAS)-positive polysaccharide inclusions were composed of short, amorphous, irregular branching filaments indistinguishable from classic polyglucosan bodies. The authors show here that increased level of GSase in the presence of normal glycogen branching enzyme (GBE) activity leads to polyglucosan accumulation. The authors have further shown that inactivation of lysosomal acid alpha-glucosidase in the knockout mice does not contribute to the process of polyglucosan formation. CONCLUSIONS: An imbalance between GSase and GBE activities is proposed as the mechanism involved in the production of polyglucosan bodies. The authors may have inadvertently created a "muscle polyglucosan disease" by simulating the mechanism for polyglucosan formation.

1,4-alpha-Glucan Branching Enzyme↗
PubMed2002

Establishment of inbred strains of chicken and Japanese quail and their potential as animal models.

We started establishing inbred strains of chicken and Japanese quail in 1970. In class Aves, full sib mating is highly difficult due to inbreeding depression. In the chicken, we attempted to establish some inbred strains in three breeds, Black Minorca, White Leghorn and Fayoumi by fixing all the characters that differentiate individuals homozygously. In this paper, we describe some marker genes and characters fixed in the inbred strains of chicken and Japanese quail as well as a calculation of a putative coefficient of inbreeding in 8 chicken inbred strains using band sharing values detected by AFLP analysis. We established generalized glycogenosis type II quail, myotonic dystrophy quail, neurofilament deficient quail, visually impaired chicken, double oviduct chicken with partial kidney deficiency, chicken showing spontaneous lymphocytic thyroiditis with feathered amelanosis, and chicken with a hereditary nervous disorder. The processes of establishment and characteristics of these animal models are described with some interesting information obtained from these animal models. In generalized glycogenosis type II quail, the results of enzyme replacement therapy and gene therapy are described.

Animals↗
PubMed1980

Hereditary and acquired abnormalities in erythrocyte phosphofructokinase activity: the close association with altered 2,3-diphosphoglycerate levels.

Specific deficiency of erythrocyte phosphofructokinase (PFK) activity in Type VII glycogenosis presents a good model for the analysis of the relationship between 2,3 diphosphoglycerate (2,3 DPG) level and glycolysis in erythrocytes since glycolytic flow is partially blocked at the regulatory step. Enzymatic analyses of glycolytic intermediates of erythrocytes from a patient with Type VII glycogenosis demonstrated that 2,3 DPG is markedly decreased in parallel with fructose-1,6-phosphate (FDP). In acidosis including diabetic ketoacidosis and uremic acidosis a fall in 2,3 DPG is also associated with a marked reduction in FDP. On the other hand, in respiratory alkalosis glycolytic intermediates shift to the opposite direction and forward crossover at PFK step appears, being associated with an elevation of 2,3 DPG. These data indicate a close relationship between 2,3 DPG level and PFK activity in erythrocytes. At least in acidosis and alkalosis the alteration in 2,3 DPG level may well be explained by changes in PFK activity caused mainly through allosteric mechanism. In addition, twelve cases with hereditary PFK deficiency in muscle and erythrocytes reported in the world are reviewed and discussed briefly.

Alkalosis↗
PubMed1975

Glycogen metabolism in human skin fibroblasts. Influence of maltose on the activity of acid alpha-1, 4-glucosidase.

Maltose added to medium in a concentration of 100 mg/100 ml enhances the hydrolytic activity of acid alpha-1, 4-glucosidase in skin fibroblasts in culture derived from normal human subjects, but under the same conditions maltose has no demostrable effect on the enzyme in fibroblasts derived from skin of patients with Cori Type II glycogenosis. Upon addition of maltose to Cori Type II fibroblasts there is a marked decrease of glucose in medium overlying the cells with a concomitant marked increase in glycogen content of the same cells. Glycogen decreases in a similar manner in both normal and mutant cell types after 16 days in culture. This apparent utilization or degradation of glycogen in Cori Type II fibroblasts in culture is difficult to explain unless only a proportion of the polysaccharide accumulates within lysosomes. We propose, therefore, that extra-lysosomal glycogen which accumulates in fibroblasts from Cori Type II glycogenosis may be more easily degraded by glycogenolytic cytoplasmic enzymes, particularly in cells grown for as long as 2 wk in glucose-starved media.

Adolescent↗
PubMed1990

Some properties of fibroblasts from a patient with debrancher deficiency.

Glycogenosis Type III is characterized by a deficiency of debranching enzyme (amylo-1,6-glucosidase, E.C. 3. 2. 1. 33) in most tissues. Low activity of liberating glucose from limited dextrin in the biopsied muscle can be demonstrated in a patient with this disease. We cultured fibroblasts from a skin biopsy from a patient with debrancher deficiency and examined the metabolism of glycogen in these cultured fibroblasts. Debrancher activity in the post-mitochondrial supernatant obtained from these fibroblasts showed a good concentration dependent manner but had approximately half of that from normal human fibroblasts (YH-1). Although the enzymatic activity of debrancher in the cultured fibroblasts from the skin was reduced essentially to the same levels as observed in muscle biopsy, little glycogen granules were accumulated in the cytoplasm of these fibroblasts as revealed by either light- or electron-microscopic observation. The fibroblasts obtained in the present study may be useful for the analysis of molecular mechanism of the debrancher deficiency disease, glycogenosis Type III.

Adolescent↗
PubMed2001

[Echocardiography in storage and neuromuscular disorders].

Storage disorders and neuromuscular disorders may lead to cardiac involvement which can be visualized by echocardiography. In storage disorders like hypothyroidism, haemochromatosis, amyloidosis, mucopolysaccharidosis and Fabry's disease, myocardial thickening and systolic dysfunction can be found. In amyloidosis, atrial enlargement and abnormal texture of the myocardium are additional findings. In advanced haemochromatosis all cardiac chambers may be dilated. In hypothyroidism and amyloidosis, a pericardial effusion can be present. In haemochromatosis and amyloidosis, a restrictive filling pattern may be detected using Doppler-sonography. Mucopolysaccharidosis and Gaucher's disease may lead to aortic and mitral stenosis. In neuromuscular disorders like glycogenosis, mitochondriopathy and myotonic dystrophy, myocardial thickening and systolic dysfunction are found, in spinal muscular atrophy myocardial thickening and in muscular dystrophy Becker/Duchenne systolic dysfunction. An abnormal myocardial texture may be present in glycogenosis, isolated left ventricular abnormal trabeculation (ILVAT) in mitochondriopathy, myotonic dystrophy and muscular dystrophy Becker/Duchenne. Using Doppler-sonography an impaired relaxation of the left ventricle may be detected in mitochondriopathy, myotonic dystrophy and spinal muscular atrophy. Most of these echocardiographic findings are unspecific and may be overlooked, especially if the storage or neuromuscular disorder is yet unknown. Establishing a correct diagnosis is important, since healing or functional improvement is possible in many of these disorders.

Amyloidosis↗
PubMed1992

[Clinical and biochemical correlations in certain metabolic myopathies].

Muscular glycogenosis is a disease resulting from genetical abnormalities altering an enzyme which is involved in glycogen metabolism. In addition to disorders of glycogenosis and glycolysis, there are other pathological processes such as alpha-glycosidase deficiency and diseases associated with abnormal polysaccharide structure. A short review of the various diseases with their particular features is reported.

Glycogen↗
PubMed2006

[Clinical studies of pediatric malabsorption syndromes].

Multiple cases with various types of pediatric malabsorption syndromes were evaluated. The clinical manifestations, laboratory findings, pathophysiology, and histopathological descriptions of each patient were analyzed in an effort to clear the pathogenesis of the malabsorption syndromes and the treatments were undertaken. The cases studied, included one patient with cystic fibrosis, two with lactose intolerance with lactosuria (Durand type), one with primary intestinal lymphangiectasia, two with familial hypobetalipoproteinemia, one with Hartnup disease, one with congenital chroride diarrhea, one with acrodermatitis enteropathica, one with intestinal nodular lymphoid hyperplasia (NLH), five with intractable diarrhea of early infancy and four with glycogenosis type Ia. Each case description and outcome is described below: 1. A 15-year-old Japanese boy with cystic fibrosis presented with severe symptoms, including pancreatic insufficiency, bronchiectasis, pneumothorax and hemoptysis. His prognosis was poor. Analysis of the CFTR genes of this patient revealed a homozygous large deletion from intron 16 to 17b. 2. In the sibling case of Durand type lactose intolerance, the subjects'disaccaridase activity of the small bowel, including lactase, were within normal limits. The results of per oral and per intraduodenal lactose tolerance tests confirmed lactosuria in both. These observations suggested, not only an abnormal gastric condition, but also duodenal and intestinal mucosal abnormal permeability of lactose. 3. In the case of primary intestinal lymphangiectasia, the subject had a lymphedematous right arm and hand, a grossly coarsened mucosal pattern of the upper gastrointestinal tract (identified via radiologic examination) and the presence of lymphangiectasia (confirmed via duodenal mucosal biopsy). The major laboratory findings were hypoalbuminemia, decreased immunoglobulin levels and lymphopenia resulting from loss of lymph fluid and protein into the gastro-intestinal tract. 4. In two cases of heterozygous familial hypobetalipoproteinemia, serum total cholesterol and betalipoprotein levels were very low. The subjects presented with symptoms and signs of acanthocytosis and fat malabsorption. Further, one subject had neurological abnormalities such as mental retardation and severe convulsions. Treatment with MCT formula diet corrected the lipid malabsorption. 5. A 5-year-old girl presented with pellagra-like rashes, mental retardation and cerebellar ataxia. An oral tryptophan (Trp) and dipeptide (Trp-Phe) loading test were conducted and the renal clearance of amino acids was also evaluated in this patient and in controls. Following the oral Trp loading test, plasma levels of Trp indicated a lower peak in the case, reaching a maximum at 60 minutes. On the other hand, the oral dipeptide (Trp-Phe) loading test in the Hartnup patient showed the peak Trp plasma level was the same as the control subjects. The renal clearance of neutral amino acids in this case increased to levels 5 to 35 times normal. 6. In the case of congenital chloride diarrhea, the subject had secondary lactose intolerance, dehydration, hyponatremia, hypokalemia, hypochloremia, hyperreninemia and metabolic alkalosis. The chloride content of her fecal fluid was very high. The concentrations were 89-103 mEq/l. In contrast, her urine was chloride-free. The subject's growth and development improved after treatment with lactose free formura and oral replacement of the fecal loses of water, NaCl and KCl. Unfortunately, the patient died of a small bowel intussusception. The kidney histopathological finding was juxtaglomerular hyperplasia by a necropsy. 7. In the case of acrodermatitis enteropathica, the subject had characteristic skin lesions, low serum zinc levels and ALPase activity. An oral ZnSO4 loading test and intestinal mucosal histology by a peroral biopsy were conducted. The serum zinc peak level was 2 hours after the oral ZnSO4 loading test. Infant formula alone could not maintain normal serum zinc ranges. Light microscopic studies of the intestinal villous architecture showed a normal pattern. However, ultrastructual examination of several epithelial cells revealed numerous intracellular vesicles. After zinc therapy, these changes were decreased. The lesions were postulated as the secondary result of zinc deficiency. 8. A 12-year-old girl presented with hypogammaglobulinemia, recurrent infections, chronic diarrhea and intestinal NLH. A barium meal and follow-through examination showed multiple nodules throughout the stomach and intestine. The nodules, all uniform in size, were 2 mm diameter. The barium enema did not show NLH in the colon. Mucosal biopsy of the stomach and jejunum revealed the typical histology of NLH in the lamina propria. Also, achlorhydria was present in this patient and her serum gastrin levels were very high; 315-775 pg/ml. 9. In 4 cases of intractable diarrhea in early infancy (by Avery G B), a jejunal biopsy showed shortening villi and nonspecific enterocolitis. Some patients were found with only low lactase or low lactase and sucrase levels. An electron microscope analysis of the small bowel in 2 cases showed alterations: increased pinocytosis in microvillus membranes and lysosomes by endocytosis of undigested macromolecular substances. I postulated that the stated evidence was causative of this clinical profile. 10. I frequently observed diarrhea as a clinical manifestation in glycogenosis type Ia and lipid malabsorption in one case. The light and electron photomicrographs showed intestinal absorption cells with the glycogen deposits in the inferior devision of nuclei.

Acrodermatitis↗