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PubMed1989

Nutritional therapy for selected inborn errors of metabolism.

Nutritional approaches are available for the management of several different classes of inborn metabolism errors. In phenylketonuria (PKU), phenylalanine is not properly metabolized; and its accumulation leads to neurologic dysfunction and metal retardation. Altering the diet to limit phenylalanine intake led to remarkable improvement in children with PKU. It was later found that instituting dietary therapy immediately after identification of the disorder in newborns prevented mental retardation. Throughout the 1960s nutritional therapies were found for other inborn disorders, including galactosemia, maple syrup urine disease, and homocystinuria. For the group of disorders associated with defects in the urea cycle, leading to profound hyperammonemia, therapy based on the concept of waste nitrogen excretion (i.e., by increasing excretion of urea cycle intermediates in the urine, nitrogen that would otherwise recycle as ammonia can be eliminated) dramatically produced better control of hyperammonemia and its consequences. Some inborn errors of metabolism respond to vitamin therapy. Biotin-related multiple carboxylase synthetase deficiency can be produced by either of two enzyme defects--holocarboxylase synthetase deficiency or biotinidase deficiency. Both are treatable with biotin supplementation. The symptoms of multiple carboxylase deficiency can also occur after intestinal resection or ingestion of raw eggs. Multiple carboxylase deficiency has been treated successfully in utero by giving the mother biotin supplements. Peroxisomal disorders may respond to dietary management. Liver disease in hereditary tyrosinemia may be accentuated by hypermethioninemia and treated by controlling the blood methionine level. Glycogen storage disease Type I, which causes hypoglycemia, can be controlled by oral administration of cornstarch.

Glycogen Storage Disease Type I↗

PubMed2000

Magnesium in human milk.

Reported concentrations for magnesium in breast milk vary over a wide range (15 to 64 mg/L) with a median value of 31 mg/L and 75% of reported mean concentrations below 35 mg/L. Constitutional variables such as adolescent motherhood, gestation length, maternal undernutrition, metabolic disorders (diabetes, galactosemia), race, stage of lactation, sampling techniques (foremilk and hindmilk), as well as environmental variables such as socio-cultural diversity, smoking habits, dietary calcium and magnesium (including supplementation), vegetarianism, calciotropic agents (immunoreactive calcitonin, vitamin D), medication (hormonal contraceptives, magnesium sulfate) are critically reviewed in relation to changes in milk magnesium concentrations. Magnesium secretion into breast milk does not seem to be affected by the studied variables.

Environment↗

PubMed2002

Mechanisms of liver injury relevant to pediatric hepatology.

Hepatocyte injury and necrosis from many causes may result in pediatric liver disease. Influenced by other cell types in the liver, by its unique vascular arrangements, by lobular zonation, and by contributory effects of sepsis, reactive oxygen species and disordered hepatic architecture, the hepatocyte is prone to injury from exogenous toxins, from inborn errors of metabolism, from hepatotrophic viruses, and from immune mechanisms. Experimental studies on cultured hepatocytes or animal models must be interpreted with caution. Having discussed general concepts, this review describes immune mechanisms of liver injury, as seen in autoimmune hepatitis, hepatitis B and C infection, the anticonvulsant hypersensitivity syndrome, and autoimmune polyendocrinopathy. Of the monogenic disorders causing significant liver injury in childhood, alpha-1 antitrypsin deficiency and Niemann-Pick C disease demonstrate the effect of endoplasmic or endosomal retention of macromolecules. Tyrosinemia illustrates how understanding the biochemical defect leads to understanding cell injury, extrahepatic porphyric effects, oncogenesis, pharmacological intervention, and possible stem cell therapy. Pathogenesis of cirrhosis in galactosemia remains incompletely understood. In hereditary fructose intolerance, phosphate sequestration causes ATP depletion. Recent information about mitochondrial disease, NASH, disorders of glycosylation, Wilson's disease, and the progressive familial intrahepatic cholestases is discussed.

Autoimmune Diseases↗

PubMed2005

Combination of glycemic and oxidative stress in lens: implications in augmentation of cataract formation in diabetes.

It is well known that the incidence of cataract is higher in diabetics as compared to non-diabetics. Its rate of maturation is also faster in the diabetics. The precise mechanism of this acceleration is not clearly understood. It is hypothesized that this could be a result of the combination of the metabolic and oxidative stress induced by glycemia itself with the age-associated increase in ambient generation of oxyradical species. In the current studies, we have investigated this possibility using the galactose cataract model. Galactosemia was induced by feeding rats a 50% galactose diet. The increased susceptibility of the glycemic lenses to physiological damage by reactive oxygen species (ROS) was studied by incubating them in Tyrode in the absence and presence of menadione. The resulting physiological damage to the lens was assessed initially in terms of its ability to maintain Na+-K+ ATPase dependent active transport of potassium ions, as represented by the uptake of rubidium ions. Subsequently, the level of ATP, indexing the general metabolic status, and the level of glutathione (GSH), indexing the status of antioxidant reserve, were also determined. The uptake of rubidium in the normal lenses incubated in the presence of the quinone was depressed to more than 50% of the controls run in the basal medium. A similar depression existed in the galactosemic lenses in comparison to the normal lenses. However, in the presence of menadione, the inhibition of the uptake was accentuated further in the case of galactosemic lenses, the uptake here being only 20% of the normal controls. Similarly, the galactosemic lenses were also more susceptible to menadione dependent decrease in ATP and GSH.

Adenosine Triphosphate↗

PubMedDate not supplied

Carbohydrate-deficient transferrin (CDT)--a biomarker for long-term alcohol consumption.

Carbohydrate-deficient transferrin (CDT) is a biomarker for chronic alcohol intake of more than 60 g ethanol/d. It has been reported to be superior to conventional markers like gamma-glutamyltransferase (GGT) and mean corpuscular volume MCV). This review covers theoretical and analytical aspects, with data from controlled drinking experiments and from different population subgroups such as subjects with different liver diseases or different drinking patterns. CDT determinations are particularly indicated in (1) cases of chronic alcohol consumption and relapses after withdrawal, (2) license reapplication after driving under alcohol influence, (3) differentiating patients with enzyme-inducing medication from those with alcohol abuse, 4) congenital disorders of glycosylation such as carbohydrate-deficient glycoprotein syndrome Ia (CDGS Ia), and (5) patients treated for galactosemia. The main advantage of CDT is its high specificity, as evidenced in combination with increased alcohol consumption. CDT values are not markedly influenced by medication except in immunosuppressed patients, who may show low CDT values. In general, CDT values appear less elevated after alcohol intake in women. The main disadvantage is the relatively low sensitivity. Hence, this parameter is not suitable for screening for subjects with alcohol abuse in the general population. As CDT, GGT, and MCV are connected with chronic alcohol consumption by different pathophysiological mechanisms, a combination of these parameters will further improve the diagnostic value.

Adult↗

PubMed2003

GALT deficiency causes UDP-hexose deficit in human galactosemic cells.

Previously we reported that stable transfection of human UDP-glucose pyrophosphorylase (hUGP2) rescued galactose-1-phosphate uridyltransferase (GALT)-deficient yeast from "galactose toxicity." Here we test in human cell lines the hypothesis that galactose toxicity was caused by excess accumulation of galactose-1-phosphate (Gal-1-P), inhibition of hUGP2, and UDP-hexose deficiency. We found that SV40-transformed fibroblasts derived from a galactosemic patient accumulated Gal-1-P from 1.2+/-0.4 to 5.2+/-0.5 mM and stopped growing when transferred from 0.1% glucose to 0.1% galactose. Control fibroblasts accumulated little Gal-1-P and continued to grow. The GALT-deficient cells had 157+/-10 micromoles UDP-glucose/100 g protein and 25+/-5 micromoles UDP-galactose/100 g protein when grown in 0.1% glucose. The control cells had 236+/-25 micromoles UDP- glucose/100 g protein and 82+/-10 micromoles UDP-galactose/100 g protein when grown in identical medium. When we transfected the GALT-deficient cells with either the hUGP2 or GALT gene, their UDP-glucose content increased to 305+/-28 micromoles/100 g protein (hUGP2-transfected) and 210+/-13 micromoles/100 g protein (GALT-transfected), respectively. Similarly, UDP-galactose content increased to 75+/-12 micromoles/100 g protein (hUGP2-transfected) and 55+/-9 micromoles/100 g protein (GALT-transfected), respectively. Though the GALT-transfected cells grew in 0.1% galactose with little accumulation of Gal-1-P (0.2+/-0.02 mM), the hUGP2-transfected cells grew but accumulated some Gal-1-P (3.1+/-0.4 mM). We found that 2.5 mM Gal-1-P increased the apparent KM of purified hUGP2 for glucose-1-phosphate from 19.7 microM to 169 microM, without changes in apparent Vmax. The Ki of the reaction was 0.47 mM. Gal-1-P also inhibited UDP-N-acetylglucosamine pyrophosphorylase, which catalyzes the formation of UDP-N-acetylglucosamine. We conclude that intracellular concentrations of Gal-1-P found in classic galactosemia inhibit UDP-hexose pyrophosphorylases and reduce the intracellular concentrations of UDP-hexoses. Reduced Sambucus nigra agglutinin binding to glycoproteins isolated from cells with increased Gal-1-P is consistent with the resultant inhibition of glycoprotein glycosylation.

Cell Line, Transformed↗

PubMed2002

The mousetrap: what we can learn when the mouse model does not mimic the human disease.

In recent years, mouse models for human metabolic diseases have become commonplace because the information gained from in vivo study of biochemical pathways is invaluable, and many metabolic diseases are relatively easy to recreate in mice through gene knockout technology in embryonic stem cells. In certain cases, however, the knockout mice may reproduce only some of the human disease phenotype, may be more severely affected than human cases, or may have no clinical phenotype at all. Under these circumstances, the disease pathology can become more complex, causing the researcher to evaluate basic differences in mouse and human biology as well as questions of genetic background, alternate pathways, and possible gene interactions. This review is a brief analysis of gene knockout models for Lesch-Nyhan syndrome, Lowe syndrome, X-linked adrenoleukodystrophy, Fabry disease, galactosemia, glycogen storage disease type II, metachromatic leukodystrophy, and Tay-Sachs disease, which produce a biochemical model of disease but often do not reproduce clinical symptoms. These mice may be useful for studying the biochemical and physiological pathways in which certain metabolites function toward embryonic and fetal development, as well as specific functions in various organs, and they may provide an inexpensive and useful model system for development of new therapeutic techniques.

Animals↗

PubMed1994

Blood sugar levels and renal sugar excretion after the intake of high carbohydrate diets in cats.

The effect of starch and sugars on blood sugar level and renal excretion of sugars and galactitol was investigated. Fifty-nine adult cats were divided into seven dietary groups (carbohydrate content in dry matter): STARCH (29-37% starch, decomposed or raw), SUC (36% sucrose), LAC1 and LAC2 (11 and 28% lactose, respectively), GLUC (40% glucose), GAL (39% galactose) and a carbohydrate-free control diet, FAT. Diet STARCH did not significantly influence postprandial blood glucose level (3.65 +/- 0.68 mmol/l +/- SD, n = 16) compared with diet FAT (3.20 +/- 0.77 mmol/l, n = 14) 1, 3 or 6 h after feeding (weighted means). Diet GLUC led to a steep rise in blood glucose concentration 1 h after feeding (5.08 +/- 0.69 mmol/l, n = 6). Diet SUC induced a mild persistent hyperglycemia without marked postprandial changes (4.52 +/- 0.52 mmol/l, n = 15, weighted mean of 0, 3 and 6 h post-prandially). Diet GAL induced persistent hypoglycemia before and after feeding (2.58 +/- 0.38 mmol/l, n = 13) and considerable postprandial galactosemia (3.26 +/- 1.38 mmol/l, n = 7). In the groups STARCH and FAT, glucose was only detectable in traces in urine, whereas all diets containing sugars led to glucosuria. In group SUC, fructose and sucrose were found in urine and in both lactose groups galactose and lactose were found. Diet GAL led to galactosuria (140 mmol galactose/l). In group LAC1, and especially in group GAL, galactitol was detected in urine. These results point to a rather limited capacity of the cat to metabolize sugars.

Animals↗

PubMed2004

Safety of soy-based infant formulas containing isoflavones: the clinical evidence.

Soy protein has been used in infant feeding in the West for nearly 100 y. Soy protein infant formulas have evolved in this interval to become safe and effective alternatives for infants whose nutritional needs are not met with human milk or formulas based on cow's milk. Modern soy formulas meet all nutritional requirements and safety standards of the Infant Formula Act of 1980. They are commonly used in infants with immunoglobulin E-mediated cow's milk allergy (at least 86% effective), lactose intolerance, galactosemia, and as a vegetarian human milk substitute. Largely as a result of research in animal models, concerns have been voiced regarding isoflavones in soy infant formulas in relation to nutritional adequacy, sexual development, neurobehavioral development, immune function, and thyroid disease. We discuss the available clinical evidence regarding each of these issues. Available evidence from adult human and infant populations indicates that dietary isoflavones in soy infant formulas do not adversely affect human growth, development, or reproduction.

Animals↗

PubMed2004

A central role for inflammation in the pathogenesis of diabetic retinopathy.

Diabetic retinopathy is a leading cause of adult vision loss and blindness. Much of the retinal damage that characterizes the disease results from retinal vascular leakage and nonperfusion. Diabetic retinal vascular leakage, capillary nonperfusion, and endothelial cell damage are temporary and spatially associated with retinal leukocyte stasis in early experimental diabetes. Retinal leukostasis increases within days of developing diabetes and correlates with the increased expression of retinal intercellular adhesion molecule-1 (ICAM-1) and CD18. Mice deficient in the genes encoding for the leukocyte adhesion molecules CD18 and ICAM-1 were studied in two models of diabetic retinopathy with respect to the long-term development of retinal vascular lesions. CD18-/- and ICAM-1-/- mice demonstrate significantly fewer adherent leukocytes in the retinal vasculature at 11 and 15 months after induction of diabetes with STZ. This condition is associated with fewer damaged endothelial cells and lesser vascular leakage. Galactosemia of up to 24 months causes pericyte and endothelial cell loss and formation of acellular capillaries. These changes are significantly reduced in CD18- and ICAM-1-deficient mice. Basement membrane thickening of the retinal vessels is increased in long-term galactosemic animals independent of the genetic strain. Here we show that chronic, low-grade subclinical inflammation is responsible for many of the signature vascular lesions of diabetic retinopathy. These data highlight the central and causal role of adherent leukocytes in the pathogenesis of diabetic retinopathy. They also underscore the potential utility of anti-inflammatory treatment in diabetic retinopathy.

Animals↗

PubMed1982

Premature hypergonadotropic ovarian failure: clinicopathological study of 19 cases.

During the 5-year period 1977-1982, 57 patients below 35 years of age with secondary amenorrhea were assessed for hypergonadotropic (primary) ovarian failure. The histological findings within the ovaries as well as pertinent clinical and laboratory correlates are described. Nineteen had diagnostic ovarian biopsies performed. The importance of this technique is stressed. The ovaries of 14 patients showed absence of primordial follicles (true premature menopause); three others showed "resistant ovary syndrome" characterized by the presence of primordial follicles but little or no follicular development (including a case of galactosemia, in which the associated ovarian failure has been ascribed to follicular atresia). The remaining two revealed florid chronic perifollicular inflammatory reactions in the presence of both primordial and also developing follicles--one lymphoplasmacytic and the other granulomatous. The former has been previously suggested as evidence of an autoimmune process, but the latter has not hitherto been reported.

Adolescent↗

PubMedDate not supplied

Neonatal hepatitis: a follow-up study.

Fifty-six patients with moderate to severe neonatal hepatitis were followed for 12 to 78 months. Two died from causes other than hepatitis itself and were free from liver disease at the time of death. Of the remaining 54 patients, seven died of hepatitis, two are living with chronic liver disease and psychomotor retardation, and 45 are living without liver disease. High peak bilirubin levels and liver histologic findings of periportal fibrosis, moderate to severe portal inflammation, and/or diffuse giant cell transformation appear to be major factors predictive for poor outcome. Cytomegalovirus (CMV) infection was a common associated infection. Evidence of CMV infection was found in 22 (49%) of the 45 patients studied. Three of them died, and one is still living with cirrhosis of the liver. Metabolic disorders such as alpha-1-antitrypsin deficiency, galactosemia, and aminoaciduria and/or aminoacidemia were carefully screened but were not found in these cases. A fatal case had a sibling who had died of a similar disease course. Chinese infants may have metabolic and familial cholestasis diseases requiring further investigation.

Bilirubin↗

PubMed2001

Duodenal tube test in the diagnosis of biliary atresia.

BACKGROUND: Biliary atresia (BA) is the main cause of severe liver damage in infants. Successful surgical treatment is related directly to an early and rapid diagnosis. The aim of this study was to determine specificity, sensitivity, and predictive value of the duodenal tube test (DTT) in the diagnosis of BA in a series of infants with cholestatic jaundice. METHODS: This was a descriptive study of a series of infants with cholestatic jaundice created to validate the sensitivity, specificity, and predictive value of the DTT in the diagnosis of BA. A total of 254 patients were identified from 1988 to 1998. The study cohort included 137 male infants (53.9%), and the mean age on admission was 8.3 weeks +/- 2.47 weeks (standard deviation). Study protocol included liver function tests, liver ultrasound, metabolic screening and serology for viral hepatitis, and toxoplasma, rubella, cytomegalovirus, herpes, and others. A nasoduodenal tube was, placed at the distal duodenum and the fluid was collected for 24 hours. DTT was considered bile positive when yellow biliary fluid was observed; the test was concluded at this time. When no yellow biliary duodenal fluid was observed, the collection was continued for 24 hours and, if negative, was reported as bile negative. The patients with a bile-positive DTT were not explored surgically, and the cholestasis workup was completed. Laparotomy and a surgical cholangiogram were indicated in patients with bile-negative DTT. If BA was verified, portoenterostomy was performed. The gold standard for BA diagnosis was the following: obstruction of the biliary tract confirmed by laparotomy and a surgical cholangiogram, and clinical outcome in patients without laparotomy (followed for a minimum of 18 months). RESULTS: The results are as follows. BA: bile-positive DTT, n = 3; bile-negative DTT, n = 108. No BA: bile- positive DTT, n = 134; bile-negative DTT, n = 9. The following values were also determined: sensitivity, 97.3%; specificity, 93.7%; positive predictive value, 92.3%; and negative predictive value, 98.5%. The final diagnoses were as follows: BA, n = 111 (43.7%); neonatal hepatitis syndrome, n = 103 (40.6%); cholestasis associated with inspissated bile syndrome, n = 13 (5.1%); choledochal cyst, n = 11 (4.3%); galactosemia, n = 9 (3.5%); cirrhosis of unknown etiology, n = 5 (2%), and Alagille syndrome, n = 2 (0.8%). CONCLUSIONS: The data obtained from this series validate the DTT as a useful clinical tool for the differential diagnosis of the infant with cholestasis, particularly for indicating laparotomy and cholangiogram to substantiate BA. This diagnostic test is quick and simple, and offers the clinician valuable information with which to determine whether surgical intervention is necessary.

Bile Ducts, Extrahepatic↗

PubMed1994

Current approaches to genetic metabolic screening in newborns.

Genetic metabolic screening in newborn infants includes both specific testing for clinical indications in sick neonates and routine newborn screening. The decision of which sick neonates should have metabolic testing is based on the clinical phenotype and the results of general laboratory analyses, with particular attention to hypoglycemia, metabolic acidosis, and hyperammonemia. Metabolic tests include analyses for amino acids and organic acids and a carnitine profile. Routine newborn screening should be performed on all neonates prior to hospital discharge but no later than the 3rd day of life. The disorders covered by newborn screening vary among the states and among countries but virtually always include phenylketonuria and congenital hypothyroidism and often include sickle cell disease and galactosemia. Other metabolic disorders that may be included in newborn screening are maple syrup urine disease, homocystinuria, biotinidase deficiency, and congenital adrenal hyperplasia.

Humans↗

PubMed2006

Soy protein infant formulae and follow-on formulae: a commentary by the ESPGHAN Committee on Nutrition.

This comment by the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) Committee on Nutrition summarizes available information on the composition and use of soy protein formulae as substitutes for breastfeeding and cows' milk protein formulae as well as on their suitability and safety for supporting adequate growth and development in infants. Soy is a source of protein that is inferior to cows' milk, with a lower digestibility and bioavailability as well as a lower methionine content. For soy protein infant formulae, only protein isolates can be used, and minimum protein content required in the current European Union legislation is higher than that of cows' milk protein infant formulae (2.25 g/100 kcal vs. 1.8 g/100kcal). Soy protein formulae can be used for feeding term infants, but they have no nutritional advantage over cows' milk protein formulae and contain high concentrations of phytate, aluminum, and phytoestrogens (isoflavones), which might have untoward effects. There are no data to support the use of soy protein formulae in preterm infants. Indications for soy protein formulae include severe persistent lactose intolerance, galactosemia, and ethical considerations (e.g., vegan concepts). Soy protein formulae have no role in the prevention of allergic diseases and should not be used in infants with food allergy during the first 6 months of life. If soy protein formulae are considered for therapeutic use in food allergy after the age of 6 months because of their lower cost and better acceptance, tolerance to soy protein should first be established byclinical challenge. There is no evidence supporting the use of soy protein formulae for the prevention or management of infantile colic, regurgitation, or prolonged crying.

Colic↗

PubMed1978

Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote.

An infant, suspected of having galactosemia following a positive screening test on dried blood spots, was shown to be a Duarte-transferase deficiency compound heterozygote through studies of electrophoretic mobility of the transferase enzyme in blood from the patient and family members. No rise in blood glucose was seen following oral ingestion of galactose. At the same time, galactose rose in plasma and was excreted in the urine; galactose-1-phosphate accumulated in erythrocytes. A galactose-free diet was considered the prudent course in the presence of the patient's inability to metabolize galactose completely.

Blood Glucose↗

PubMed1991

Galactose-1-phosphatase in rat brain.

A prominent galactose-1-phosphatase was isolated from rat brain and partially purified by chromatography on diethylaminoethyl-Sephacel, hydroxylapatite, and Sephacryl S-300 columns. The galactose-1-phosphatase was separated from alkaline phosphatase, and from two forms of glucose-1-phosphatase. The three columns gave a 10-fold increase in specific activity to 290 mol/min/mg of protein, with a yield of 15%. Of the eight sugar phosphates tested, galactose-1-phosphate was the best substrate for the purified enzyme, followed by glucose-1-phosphate, which was hydrolyzed 40% as rapidly as galactose-1-phosphate. Galactose-1-phosphatase had an optimum pH of 8.5 and a Km value of 2.5 mM for galactose-1-phosphate hydrolysis. Mg2+ was required for activity, and supported half-maximal activity at a concentration of 1.25 mM. Phosphate was the only potent inhibitor found ATP, arsenate, and vanadate caused moderate inhibition of 10 mM levels, whereas AMP, L-homoarginine, and L-phenylalanine stimulated enzyme activity. Galactose-1-phosphatase was determined to have a Stokes radius of 30 A and a sedimentation coefficient of 4.1S. These values were used to calculate a molecular weight of 50,200 and a frictional ratio showing the enzyme to be a globular protein. It is hypothesized that a similar phosphatase may play a role in reducing brain galactose-1-phosphate concentrations in patients with galactosemia.

Animals↗

PubMed1981

Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity. A report on two siblings.

Two siblings of Turkish-Assyrian extraction, whose parents were first cousins, had poor appetite, slow weight gain and retarded psychomotor development. When given milk the galactose concentration in blood increased. An oral galactose load showed a markedly reduced capacity to metabolize galactose. Fanconi syndrome was present as in classical galactosemia. A galactose-free diet reduced the aminoaciduria but did not normalize the renal tubular function nor the children's general condition. Galactokinase and galactose-1-phosphate uridyltransferase activities in red blood cells were normal. The physical appearance of the children (sparse subcutaneous fat, thin extremities and distended abdomen) and the results of vitamin A and xylose absorption tests, were in accordance with a malabsorption condition. Glucose, however, seemed to be absorbed normally from the gut. There was no evidence of primary liver disease. Since the condition did not normalize with a galactose-free diet, an enzyme defect of galactose metabolism is unlikely. Instead, a more general transport defect with autosomal recessive inheritance is proposed.

Carbohydrate Metabolism, Inborn Errors↗