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Amino and organic acid analysis: Essential tools in the diagnosis of inborn errors of metabolism
2019Inborn errors of metabolism (IEMs) are a large class of genetic disorders that result from defects in enzymes involved in energy production and metabolism of nutrients. For every metabolic pathway, there are defects that can occur and potentially result in an IEM.
William S. Phipps +2 more
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Urine Amino Acid Analysis by HPLC in the Investigation of Inborn Errors of Metabolism
1986Reversed-phase high performance liquid chromatography (HPLC) of o-phthalal-dehyde (OPA) derivatives provides a technique that is readily applicable to the estimation of free amino acids (Turnell and Cooper, 1982; Griffin etal., 1982; Price et al., 1984; Palmer, 1985).
V. G. Oberholzer +5 more
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INBORN ERRORS OF AMINO-ACID METABOLISM [PDF]
British Medical Bulletin, 1969 openaire +2 more sources
Chromatographic screening of 70,328 neonates for inborn errors of amino acid metabolism.
Acta paediatrica Hungarica, 1985Between the years 1974 and 1984, amino acid chromatography was performed from dried blood spots and partly from urine of 70 328 neonates. Six cases of phenylketonuria, one histidinaemia, one hyperglycinaemia and three cystinurias were found. Since all these could have been detected by other methods, the regional screening was discontinued in agreement ...
Méhes, K. +2 more
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Dietary Management of Inborn Errors of Amino Acid Metabolism With Protein-Modified Diets
Journal of Child Neurology, 1992This paper presents experiences encountered with protein-modified diets (PMD) in the management of 67 patients, aged 1 day to 14 years, followed in the Pediatric Nutrition Clinic in the past 5 years. All had inborn errors of amino acid metabolism : maple syrup urine disease (MSUD), 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency ...
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Pediatrics, 1967
It is clear that, although further screening programs of neurologically defective subjects are bound to uncover more unusual defects in intermediary metabolism, we are still at a loss to explain the pathogenesis for the cerebral abnormality in the most common of the amino acid disorders.
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It is clear that, although further screening programs of neurologically defective subjects are bound to uncover more unusual defects in intermediary metabolism, we are still at a loss to explain the pathogenesis for the cerebral abnormality in the most common of the amino acid disorders.
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Screening for inborn errors of amino acid metabolism [PDF]
The Indian Journal of Pediatrics, 1974 openaire +1 more source
Diet Therapy for Inborn Errors of Amino Acid Metabolism
Journal of the American Dietetic Association, 1967openaire +3 more sources
A Survey of Inborn Errors of Amino Acid Metabolism and Transport in Man
Annual Review of Biochemistry, 1981A Meister, D Wellner
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Carnitine metabolism in patients with inborn errors of amino acid metabolism
Clinical Nutrition, 1985D Pennschmidtsommerfeld +4 more
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