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PubMed1991

Congenital intractable diarrhea with possible defective crypt regeneration: report of a case.

A male infant, born uneventfully from a consanguinous marriage, presented with intractable watery diarrhea from his third day of life, with subsequent malnutrition and failure to thrive. He received central parenteral nutrition beginning at three months of age after a poor response to a semielemental diet and peripheral parenteral nutrition. He was totally dependent on central parenteral nutrition thereafter. Although diarrhea disappeared with strict bowel rest, intolerance to minimal enteral feedings persisted throughout his 2 years 4 months of life. Investigations including stool examinations and repeated cultures, immune function studies, radiologic studies of the small bowel and screening for galactosemia and cystic fibrosis could not demonstrate a specific cause for the diarrhea. Repeated small intestinal biopsies at 1 month, 4 months and 1 year 5 months of age showed persistent villous atrophy with crypt hypoplasia and a low crypt mitotic index. Electron microscopic examination revealed normal-appearing microvilli. This child may have had a congenital enteropathy due to an inborn crypt regeneration defect causing lifelong intolerance to enteral feedings.

Atrophy↗
PubMed2007

Effect of the isoflavone genistein against galactose-induced cataracts in rats.

Worldwide, ocular cataracts are a major cause of human blindness. A key goal of cataract-related research is to identify simple, cost-efficient but effective ways to prevent cataract formation or progression. Genistein is a naturally occurring dietary isoflavone with well-documented estrogenic, antioxidant, and protein tyrosine kinase inhibitor activity, which in turn modulates the activity of several enzymes involved in cell signaling and proliferation. Furthermore, many isoflavones have been shown to be potent inhibitors of aldose reductase, which is an important rate-limiting enzyme in the process of cataract induction in the metabolic disease galactosemia. In order to assess the potential for genistein to mitigate cataract formation, we have studied its effects in the animal model of dietary galactose-induced cataracts in adult male rats. Our experimental hypothesis was that dietary genistein would prevent or delay the progression of cataracts induced by high dietary intake of galactose. Our results show that the isoflavone genistein was not able to completely prevent galactose-induced cataract formation, but genistein did delay the progression of cataracts induced by dietary galactose. In addition, we found that dietary galactose decreased concentrations of serum somatostatin, while adding genistein decreased the serum glucose level but increased the serum testosterone level. As an initial inquiry into the mechanisms by which the partial protective effect of genistein could be mediated, we found that genistein increased the expression of connexin (Cx) 43 in the lens but did not affect the expression of soluble guanylyl cyclase (sGC) subunits. This finding suggests that the partial protective effect of genistein on cataract induction appears to be unrelated to sGC but may be mediated by enhanced expression of Cx43 and changed metabolic state.

Animals↗
PubMed1977

The Philadelphia variant of galactokinase.

We have previously reported the existence of a polymorphism that causes black populations to have lower mean RBC galactokinase activity than comparable white populations. We have designated this allele the Philadelphia variant, GALKP, and have suggested that it is common in blacks and rare in whites. GALKP individuals have normal WBC GALK activity, in contrast to the half normal WBC GALK activities of heterozygotes for the allele (GALKG) that causes the galactokinase-deficient form of galactosemia. In one family, we have presented evidence for the existence of two sisters heterozygous for both GALKG and GALKP alleles. These individuals have 50% normal WBC GALK activity and less than 50% normal red cell activity. The latter finding indicates that the two variant GALK alleles additively affect RBC activity. The WBC results suggest that the low activity of GALK in RBC of individuals with the GALKP allele is due to its relative instability. We could obtain no evidence for such instability from studies of high reticulocyte bloods or RBC fractionation. Furthermore, we could not demonstrate that the GALK in WBC from GALKP individuals has altered electrophoretic migration.

Alleles↗
PubMed1990

[Hypoplasia of tooth in children with inborn errors of metabolism].

For the investigation of the clinical dental manifestations of inborn errors of metabolism, the oral examination of twenty one children aged from 5 months to 15 years 5 months was performed at the pediatric clinic of inborn errors of metabolism. The results were as follows: 1. In six of seven histidinemia patients, white spots, pit or hypoplasia of enamel, fused teeth, peg teeth or abnormal tubercles were observed. 2. In a patient with GM1-gangliosidosis, the upper and lower central incisors had severe white spots. 3. In one patient with osteopetrosis, one of two glycogenosis type IX and one of two homocystinuria patients, white spots or hypoplasia of enamel were observed. 4. One patient with hypophosphatemic vitamin D-resistant ricket, one with vitamin D-dependent ricket type II and one with galactosemia patient had no enamel hypoplasia. It was strongly suggested that there is a specific relationship of histidinemia and GM1-gangliosidosis to dental manifestations.

Adolescent↗
PubMedDate not supplied

[Congenital hypothyroidism missed on newborn screening: report of two cases].

Two male term babies were born at Mackay Memorial Hospital; both were born without incident. Newborn screenings (including phenylketonuria, homocystinuria, galactosemia, congenital hypothyroidism and G-6-PD deficiency) were performed at the age of three days and judged to be normal. In the later neonatal period, case 1 gradually developed prolonged jaundice, poor feeding and poor weight gain. The rechecked thyroid stimulating hormone (TSH) level was 276.3 mU/l. Case 2 was admitted with seizures; the TSH level, rechecked by chance, showing 11.6 mU/l. Under the suspicion of congenital hypothyroidism, serum confirmation tests were performed and showed TSH 393.6 mU/l, 37.09 mU/l and T4 2.87 micrograms/dl, 4.59 micrograms/dl, respectively. The diagnosis was, thus, congenital hypothyroidism with delayed rise in TSH level. The conclusion is that, regardless of the result of newborn screening, a serum confirmation test (T4 & TSH level) should be done in any infant who is suspected to have congenital hypothyroidism.

Congenital Hypothyroidism↗
PubMed1990

[The bronze baby syndrome Apropos of 3 cases].

Bronze baby syndrome is an infrequent complication of phototherapy for neonatal jaundice which develops in infants with liver disease. The characteristic feature is a grayish-brown discoloration of the skin, plasma and urine. Three cases are reported. There was one case each of bile duct atresia, galactosemia, and parenteral nutrition with cholestasis. The pigment responsible for the discoloration has not been identified and pathogenesis remains unelucidated. The bronze color disappears spontaneously and the prognosis is dependent on the causative liver disease for which investigations should be performed routinely.

Biliary Atresia↗
PubMed1989

Metabolic correlates of learning disability.

To summarize, the neuropsychologic findings in MSUD and MMA children in both groups demonstrated deficits in cognitive/language areas, but interesting individual differences existed. For example, a marked contrast in abilities existed between NT and GV, even taking into account the age difference between these children with MSUD. While NT's general intellectual functioning was within the low-average range, GV was severely impaired. In more specific areas of cognitive functioning, NT had an uneven performance profile with areas of strengths and weaknesses, while GV evidenced a flat profile with significant impairment in all areas. NT demonstrated mild delay in visual-spatial processing, articulation development, motor-speech abilities, and selective attention and concentration; however, his language and psychosocial development were within the broad range of normality. In contrast, GV exhibited severe dysfunction in speech, language, and perceptual/conceptual development. The three children with MMA also exhibited a range of disabilities in cognitive functioning. TJ and SH contrasted in the degree of developmental delay across language and cognitive domains. Both were distractible and exhibited very short attention spans but there was a measurable difference in the extent of their speech, language, visual-spatial development. CH was markedly delayed in all areas of cognitive development, which is consistent with global retardation. The severity of her disease and its probable impact on brain development were undoubtedly related to her intellectual impairment. These datasets illustrate the challenges we face, because within each group we see a range of impairment. Nevertheless, we are optimistic that our efforts to relate metabolic, anatomic and neuropsychologic findings for such children will lead to a better understanding of these disorders. We are hopeful that this will result in new advances in diagnosis and intervention, which will ultimately improve the prognosis for cognitive development. In summary, a multidisciplinary center has been established at UCSD to study the neurologic basis of disorders of language, learning and behavior in infants and children. The center draws together a group of researchers from many fields including neurology, biochemistry, pediatrics, cognitive and developmental neuropsychology, psycholinguistics, neurophysiology and communicative disorders. Because of the diverse interests and expertise of our group, it is hoped to forge a synthesis of the behavioral and neurosciences to study populations of children with a variety of neurologic, metabolic, and language/learning disorders. Disorders currently under study include Lesch-Nyhan disease, oculocutaneous tyrosinemia, propionic acidemia, carnitine palmityl transferase deficiency, Schwachman-Diamond syndrome, histidinemia, Hartnup disease, citrullinemia, galactosemia, maple syrup urine disease, and methylmalonic acidemia.(ABSTRACT TRUNCATED AT 400 WORDS)

Child↗
PubMed1989

[Alpha 1-antitrypsin deficiency with histologic expression of metabolic disease of carbohydrates].

A two months old male affected by alpha-1-AT PiZZ deficiency with severe transient neonatal cholestasis is presented. Two hepatic biopsies were practiced in neonatal period. There was no evidence of PAS positive globules, but an intense univacuolar steatosis and a rossetoid transformation of hepatocytes were observed. Both findings are identical to those found in the histopathologic study of the liver in certain metabolic diseases such as fructosemia and galactosemia. A third biopsy practiced at an age of two years confirmed diagnosis of alpha-1-AT deficit since presence of PAS positive globules was established. It must be pointed out that histopathological findings show great variability among different patients with alpha-1-AT deficit in the neonatal period, as well as the infrequent presence of PAS positive globules in hepatic biopsies of those c during the first months of life.

Biopsy↗
PubMed1988

Free triiodothyronine measured in dried blood spots from normal, low-birth-weight, and hypothyroid neonates.

Free triiodothyronine (FT3) has rarely been studied in neonates, primarily because of obvious problems in obtaining serum samples from neonates for research purposes. We adapted an analog radioimmunoassay for measuring FT3 in dried blood samples and used it to assay 361 samples selected from those collected for the screening for neonatal hypothyroidism. The mean FT3 concentration in healthy neonates on the fourth postpartum day is 2.55 pmol per liter of whole blood (SD 0.78 pmol/L, n = 145), the same as in healthy adults. Low-birth-weight infants have a decreased concentration of FT3, and this decrease is much greater in premature neonates than in infants at low weight for gestational age. In six hypothyroid newborns, the FT3 concentration was normal or increased, clearly indicating that FT3 assay is not a diagnostic tool for hypothyroidism. FT3 was barely detectable in one case of congenital galactosemia.

Humans↗
PubMed1988

[Premature failure of the ovaries].

The premature ovarian failure syndrome has been reviewed on the basis of existing data. The frequency, clinical picture and diagnostic procedures of premature ovarian failure are discussed. The disorder is characterized by secondary amenorrhea with constant estrogen deficiency and elevated gonadotropin levels in the post-menopausal range. Differential diagnosis is to be made with pituitary adenomas secreting gonadotropin, circulating gonadotropin antibodies, and biological profiles typical of the peri-menopausal years. Histopathology distinguishes two principal forms of premature ovarian failure: the premature menopause with complete follicular depletion of the ovaries, and the insensitive ovary syndrome. A correct ovarian biopsy is important for this diagnosis and can also help to point toward an immunological etiology. The following causes of premature menopause are analysed: chromosomal abnormalities, autoimmune disorders, viral infections and galactosemia. The toxic and iatrogenic causes are not developed. The factors eventually implicated in the insensitive ovary syndrome are discussed: deficient biological activity of gonadotropins, the presence of inhibitor substances preventing hormone action and the presence of antibodies toward FSH receptors. In the management of premature ovarian failure, a possible autoimmunization has to be considered. When an immunological disorder is suspected, other autoimmune glandular failures, that may develop secondarily, have to be detected. From the 26 pregnancies reported after a diagnosis of the insensitive ovary syndrome, only two occurred after a correct ovarian biopsy. Those cases seem to indicate that reducing endogenous gonadotropins to normal levels is important before considering induction of ovulation.

Adult↗
PubMed1988

Galactose inhibition of ovulation in mice.

Clinical evidence suggests an association between galactosemia and premature ovarian failure. In the present study, adult female mice were fed a diet consisting of 50% galactose for either 2, 4, or 6 weeks. At all times there was a decrease in the normal ovulatory response, as evidenced by a reduction in the number of corpora lutea when compared with controls. Additionally, the exposure of galactose-treated mice to a superovulatory regimen of pregnant mare's serum gonadotropin (PMSG) and human chorionic gonadotropin (hCG) failed to induce an increased ovulatory response. Morphologic alterations, such as the increase in interstitial tissue and the appearance of lipofuscin, coupled with the failure to respond to exogenous gonadotropins, suggest that the reduced ovulatory response may be occurring at the level of the ovary. This effect, however, is reversible with cessation of galactose treatment.

Animals↗
PubMed1988

Newborn screening for sickle cell disease: effect on mortality.

Newborn screening for sickle cell disease has been recommended as a method of decreasing patient mortality. However, its effectiveness in accomplishing this has not been reliably measured. To help determine the effectiveness, 10 years of experience in newborn screening have been summarized. The effects of early patient enrollment in a comprehensive treatment program on long-term morbidity and mortality are reported. From 1975 to 1985, 84,663 newborns were screened regardless of race or ethnic background. Bart's hemoglobin was present in 5%, hemoglobin AS in 2.6%, and hemoglobin AC in 0.75%. Excluding Bart's, approximately 3.6% of all newborns were carriers for hemoglobinopathy. Sickle cell disease occurred in 1:951 births (58 hemoglobin SS, 25 hemoglobin FSC, three hemoglobin S-beta +-thalassemia, and three hemoglobin S-beta O-thalassemia). In addition, one in every 4,233 newborns had a clinically significant thalassemia syndrome (eight hemoglobin FE, ten hemoglobin F only, two hemoglobin H). Compared with other newborn screening programs in California, (congenital hypothyroidism, 1:3,849; phenylketonuria 1:22,474, galactosemia 1:74,103), hemoglobinopathies are the most prevalent congenital disease. Eighty-one newborns with sickle cell disease were followed for 7.2 years. Patients experienced 513 hospitalizations, including 13 episodes of sepsis with or without meningitis and ten acute sequestration crises. The overall mortality rate for patients with sickle cell anemia diagnosed in the newborn period was 1.8%. In comparison, the clinical course of 64 patients with sickle cell anemia diagnosed after 3 months of age and followed for an average of 9.4 years was analyzed. Five of these patients died. In two of these, sickle cell anemia was diagnosed at the time of the death.(ABSTRACT TRUNCATED AT 250 WORDS)

Anemia, Sickle Cell↗
PubMed1966

Ocular correlates of inborn metabolic defects.

The eye provides unique opportunities for the detection, during life, of deposits of storage substances and other characteristic changes resulting from inborn metabolic defects. The cornea shows the macromolecular polysaccharides of Hurler's disease, the cystine crystals in cystinosis, and the copper deposits of Wilson's disease. The sclera shows characteristic pigmentation in alcaptonuria. The iris shows the lack of pigmentation in various types of albinism. The lens is cataractous in galactosemia and dislocated in homocystinuria. The vitreous is opacified in familial amyloidosis. The retina shows different and characteristic deposits with the diseases of Tay-Sachs, Niemann-Pick, metachromatic leukodystrophy, and Farber's lipogranulomatosis. The retinal veins show pronounced tortuosity with Fabry's disease. There is some evidence that optic neuropathy occurs in glucose-6-phosphate dehydrogenase deficiency. Curiously, few abnormalities in the eye have been described in subjects with the glycogen storage diseases.

Eye Manifestations↗
PubMed1982

Genetic services in the United States.

In fiscal years 1979 and 1980, the Genetic Diseases Service Branch of the Health Services Administration funded 34 state genetic service programs in the United States through monies from the National Genetic Diseases Act (PL 94-278) of 1976. During the two-year period, 131,818 at-risk individuals were provided with genetic counseling. Analyses of amniotic fluid were performed on 42,003 specimens, with 436 abnormal fetuses (1%) detected. Utilization ratios of amniocentesis for advanced maternal age ranged from a low of 5% to a high of 49%. Screening programs for inborn errors of metabolism reported testing 3, 158,521 specimens. The numbers of affected children detected nationally were 195 with phenylketonuria (1:16,000), 536 with hypothyroidism (1:5,900), 25 with galactosemia (1:39,685), eight with maple syrup urine disease (1:86,984), and eight with homocystinuria (1:139,008).

Adult↗
PubMed1981

Metabolic abnormalities in the idiopathic Fanconi syndrome: studies of carbohydrate metabolism in two patients.

Two patients with idiopathic Fanconi syndrome and glucose intolerance were studied from a metabolic perspective. They had fasting hyperglycemia, massive glucosuria, insulinopenia, ketosis, and elevated serum free fatty acids. There was a markedly blunted insulin secretory response to glucagon, tolbutamide, glucose, and arginine. One patient had the findings of diabetic retinopathy and a sensory neuropathy. Neither patient could convert galactose to glucose, but they did not have galactosemia. As a result of these studies, and previous reports in which similar changes were noted, we conclude that diabetes mellitus may occur in patients who have had idiopathic Fanconi syndrome for many years.

Adolescent↗
PubMed1982

Amniocentesis and fetoscopy.

Amniocentesis and fetoscopy are two of several modalities used to offer information during the prenatal period of the status of the fetus. Amniocentesis is most frequently used and with continuing research is becoming an invaluable aid to prenatal diagnosis. With the recent studies of DNA characteristics of globin chains of cells obtained at amniocentesis, the need to obtain blood directly from fetal vessels to diagnose major hemoglobinopathies prenatally is rapidly diminishing. Open neural tube defects are diagnosable with alpha feto protein analysis. All chromosomal defects are accurately quantitated and more than 100 inborn errors of metabolism are predictable. Fetoscopy is a technique which has a limited utility. It should be confined to major centers where adequate midtrimester abortions are done in order to provide training for those who aspire to pursue this method. With fetal blood sampling the following conditions are detected: beta thalassemia major, Hemophilia A, sickle cell anemia, chronic granulomatous disease, galactosemia and Tay Sachs disease, all of which may be diagnosed directly. Alpha and beta thalassemia, Hemophilia B and homozygous Von Willenbrand's disease may be excluded. With fetal biopsy one can diagnose congenital bullous ichthyosiform erythroderma ichthyosis. During the last ten years the amount of information brought to our attention has also brought the expectation that the next decade will be the most fruitful period in our history in this discipline.

Adult↗
PubMed1981

Detection of inborn errors of metabolism in 1,117 patients studied because of suspected inherited disease.

Results of screening tests for the detection of inborn errors of metabolism in 1,117 consecutive patients are reported in this work; patients came for a second consultation to the Departamento de Genética, Centro Médico de Occidente, IMSS. Simple qualitative test were made that revealed the presence of abnormal metabolites (amino-acids, sugars, organic acids and mucopolysaccharides) in urine and blood as well as identification tests for variant proteins. Results were positive in 138 patients and test for confirmation and/or specificity were made in all patients; in 35 the following diagnosis and incidence were established: classic galactosemia, 2; glucose-6-phosphate dehydrogenase deficiency, 20; essential pentosuria, 1; hyperphenylalaninemia, 5; blue diaper syndrome, 1; cistinuria 1, and type 1 mucopolysaccharidosis, 5.

Amino Acid Metabolism, Inborn Errors↗
PubMed1981

[Progress in the early detection of inborn errors of metabolism].

The aim of present study was to evaluate the effectiveness of screening program for early detection of some metabolic errors in newborn population. The examinations included: early diagnostic of some amino acids and carbohydrates disturbances, cystic fibrosis and congenital hypothyreosis. Guthrie test and multidirectional urine screening test were used for the diagnostics of inborn errors in amino acids metabolism. Guthrie test for phenylalanine proved its high effectiveness and taking into account the relatively high frequency of phenylketonuria in our population this screening has been introduced as obligatory. The evaluation of pilot screening for tyrosinemia, homocystinuria and histidinemia in spite of no objections as to the tests themselves proved low frequency of these disorders in our country, sofar these tests have been abandoned. Multidirectional urine screening carried out in 6-8 weeks old infants allows for follow up control for some aminoacidopathies, and also for the detection of some transport metabolism and other metabolic errors. There is no doubt that screening tests for galactosemia should be carried out because of severe course of the disease and good results of its treatment. Problem to be discussed is the choice of screening procedure and age at which it should be performed. Cystic fibrosis being one of the most common disease in the group of metabolic disorders needs to be screened, because the detection allows for early introduction of complex palliative treatment. The comparative evaluation of three meconium tests for cystic fibrosis revealed dry paper meconium test to be the most useful and following to organize central screening center. Skin chloride system being fast and easy test is too expensive to be introduced as mass screening. Results of pilot screening study for congenital hypothyreosis point out the necessity for the mass diagnostic of this disorders. Choice of the test however is connected with economical aspects of the screening procedure.

Age Factors↗