Results 261 to 270 of about 24,798 (312)

Carnitine metabolism and inborn errors

Journal of Inherited Metabolic Disease, 1984
AbstractCurrent knowledge of the metabolic role, biosynthesis, cellular uptake, excretion and turnover of carnitine is reviewed. The clinical spectrum and possible aetiology of the primary muscle and primary systemic carnitine deficiency syndromes are considered and the various genetic defects of intermediary metabolism which can give rise to secondary
A G, Engel, C J, Rebouche
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INBORN ERROR OF HISTIDINE METABOLISM

Pediatrics, 1962
A 3-year-old girl with fair hair and blue eyes came under observation because of speech retardation. The patient was given a phenylalanine-free diet, since persistently positive urine tests with ferric chloride and reagent strips (Phenistix) were strongly suggestive of phenylketonuria.
H, GHADIMI, M W, PARTINGTON, A, HUNTER
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Inborn errors of metabolism

The American Journal of Clinical Nutrition, 1979
Human nutrition science and practise to the outsider, at any rate, appears to emphasize the availability, procurement, preparation, and requirement of foodstuffs in man in both health and disease. Special consideration has, of course, been given to defining needs at various ages, the Recommended Dietary Allowances (RDAs), to the biochemistry of ...
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Inborn errors of metabolism in Singapore

Journal of Inherited Metabolic Disease, 1994
SummaryBetween 1992 and 1994 the Paediatric Metabolic Centre screened 403 patients for inherited metabolic disease. Seventeen patients were diagnosed, including 7 with organic acidurias, 5 with mucopolysaccharidoses, 2 with amino acid disorders, 2 with carbohydrate disorders and 1 with hyperlipidaemia.
I. K. Tan, L. F. Chio, F. C. Loh, S. C. Wee, I. Ng, S. H. Teo, Y. P. Yong, D. Chan, W. C. Chow, P. S. Ho, K. W. Lim, A. Goh, A. Pratibha, P. Kumar, Y. S. Wong   +14 more
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Inborn Errors of Pterin Metabolism

Annual Review of Nutrition, 1988
HY PERPHENY LALANINEMIA DUE TO TETRAHYDROBIOPTERIN DEFICIENCy 188 GTP Cyclohydrolase I Deficiency 188 6-Pyruvoyl Tetrahydropterin Synthase Deficiency 189 Dihydropteridine Reductase Deficiency 191 Other Forms ...
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Epilepsy in inborn errors of metabolism

2013
Epilepsies associated with inborn errors of metabolism (IEM) represent a major challenge. Seizures rarely dominate the clinical presentation, which is more frequently associated with other neurological symptoms, such as hypotonia and/or cognitive disturbances.
Nadia, Bahi-Buisson, Olivier, Dulac
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Inborn Errors of Metabolism (Metabolic Disorders)

Pediatrics in Review, 2016
By their very nature, rare inborn errors of metabolism challenge the generation and application of evidence-based medicine. • On the basis of limited research evidence as well as consensus, newborn screening for select metabolic disorders, including phenylketonuria, medium-chain acyl CoA dehydrogenase deficiency, and glutaric acidemia type I, may ...
Gregory M, Rice, Robert D, Steiner
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Inborn Errors of Fructose Metabolism

Annual Review of Nutrition, 1994
METABOLISM OF FRUcrOSE .. . . . . . . . . . . . . . . . . . . . . . . . . . . . • . • . • . . . . . . . . . . 42 Enzymes of Fructost Metabolism .... . .... . ... . .. . ........ . . . . . . . . . . . . . . . . 42 Alternate Pathways of Fructose Metabolism ...... . . . . . . . . . . . . . . . . . . . . . . .. . .
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Inborn Errors of Biotin Metabolism

Archives of Dermatology, 1987
The important role of biotin in human physiology has been highlighted by the recognition of two newly discovered human inborn errors of the metabolism of biotin. The molecular defect in the neonatal-onset disease is in the enzyme holocarboxylase synthetase. The defect in the later infantile-onset disease is in the enzyme biotinidase.
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Parkinsonism and inborn errors of metabolism

Journal of Inherited Metabolic Disease, 2014
AbstractParkinsonism is a frequent neurological syndrome in adulthood but is very rare in childhood. Early forms of Parkinsonism have many distinctive features as compared to Parkinsonism in adults. In fact, rather than Parkinsonism, the general concept “hypokinetic‐rigid syndrome” (HRS) is more accurate in children.
Garcia-Cazorla A, Duarte ST
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