ABSTRACT
A 17-year-old girl with progressive lipid-storage myopathy for 2 years had low muscle carnitine levels. There was no therapeutic response to prednisone and DL-carnitine-HCl. Chemical findings indicated glutaric aciduria type II. Riboflavin therapy and a fat-restricted, carbohydrate-enriched diet resulted in dramatic improvement. Low carnitine concentrations in plasma and muscle were observed in three asymptomatic sisters who had normal urinary excretion patterns. There was impaired mitochondrial beta-oxidation in cultured skin fibroblasts from the index patient and all three siblings.
Subject(s)
Carnitine/deficiency , Glutarates/urine , Lipid Metabolism , Metabolic Diseases/complications , Muscular Diseases/complications , Riboflavin/therapeutic use , Adolescent , Carnitine/therapeutic use , Child , Fatty Acids/metabolism , Female , Fibroblasts/metabolism , Humans , Infant , Metabolic Diseases/enzymology , Metabolic Diseases/genetics , Metabolic Diseases/metabolism , Mitochondria, Muscle/enzymology , Mitochondria, Muscle/metabolism , Muscular Diseases/enzymology , Muscular Diseases/genetics , Muscular Diseases/metabolism , PedigreeABSTRACT
Owing to improved analytical techniques early recognition has been possible in an increasing number of inborn diseases during recent years. Chromatographic techniques applied in the detection of these diseases include thin layer chromatography, (high pressure) liquid chromatography, gaschromatography and gaschromatography combined with mass spectrometry. This article describes recent advances in the chromatographic methods used in the detection of these diseases and speculates about future development.
Subject(s)
Metabolism, Inborn Errors/diagnosis , Chromatography, Gas , Chromatography, High Pressure Liquid , Chromatography, Liquid , Chromatography, Thin Layer , Gas Chromatography-Mass Spectrometry , Humans , Infant, NewbornSubject(s)
Hypoglycemia/etiology , Oxo-Acid-Lyases/deficiency , Acyl Coenzyme A , Amino Acid Metabolism, Inborn Errors/complications , Amino Acid Metabolism, Inborn Errors/diagnosis , Glutarates , Humans , Hypoglycemia/urine , Infant , Leucine/metabolism , Liver/enzymology , Male , Oxo-Acid-Lyases/metabolismABSTRACT
The organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency is described. In addition to 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids, substantial amounts of glutaric and adipic acids were repeatedly observed. 3-Methylcrotonic acid and possibly one of its isomers was found to be formed artificially from 3-methylglutaconic acid.
