Results 221 to 230 of about 20,779 (267)

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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Diagnosis of Inborn Errors of Metabolism

Archives of Medical Research, 2000
Systematic detection of inborn errors of metabolism (IEM) has usually encountered difficulties in developing countries. We present our experience in a high-risk population in Mexico between 1973 and 1998 with particular reference to the last 10 years, during which time infrastructure and support were considerably improved.
A, Velázquez, M, Vela-Amieva, I, Cicerón-Arellano, I, Ibarra-González, M E, Pérez-Andrade, Z, Olivares-Sandoval, G, Jiménez-Sánchez   +6 more
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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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HYPOTHYROIDISM AS AN INBORN ERROR OF METABOLISM

The Journal of Clinical Endocrinology & Metabolism, 1954
CRETINISM in the United Kingdom is commonly sporadic and athyroidic; iodine intake is adequate but functional thyroid tissue is absent. In areas of endemic goiter, cretins are born with goiters; functional thyroid tissue is available initially but there is an insufficient supply of iodine to allow the thyroid gland to keep the fetus or infant in ...
J H, HUTCHISON, E M, McGIRR
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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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Treatment of Inborn Errors of Metabolism

Pediatrics International, 1980
AbstractThe results of a collaborative study of children treated on newborn mass‐screening program in Japan are described. Forty‐three cases of PKU, in which the dietary treatment was started between 9 to 35 days of life, were followed up, their ages ranging from 6 months to .6 years. DQ or IQ was found to be within normal range in all cases.
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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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Inborn errors of fructose metabolism

The American Journal of Clinical Nutrition, 1993
A review is presented of genetic defects affecting fructose metabolism in humans. Presently, six conditions have been recognized: fructose malabsorption, fructokinase deficiency, aldolase A and aldolase B deficiency, fructose-1,6-diphosphatase deficiency and D-glyceric aciduria.
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Inborn Errors of Metabolism

Journal of the American Dietetic Association, 1966
V H, Auerbach, A M, Digeorge
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Testing for Inborn Errors of Metabolism

Continuum, 2018
This article provides an overview of genetic metabolic disorders that can be identified by metabolic tests readily available to neurologists, such as tests for ammonia, plasma amino acids, and urine organic acids. The limitations of these tests are also discussed, as they only screen for a subset of the many inborn errors of metabolism that exist ...
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