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L‐2‐Hydroxyglutaric aciduria: an inborn error of metabolism?
Author(s) -
Duran M.,
Kamerling J. P.,
Bakker H. D.,
Gennip A. H.,
Wadman S. K.
Publication year - 1980
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02312543
Subject(s) - inborn error of metabolism , psychomotor retardation , urine , psychomotor learning , metabolism , excretion , endocrinology , medicine , dystrophy , chemistry , pathology , cognition , alternative medicine , psychiatry
A 5‐year‐old boy, excreting large amounts of 2‐hydroxyglutaric acid in the urine (3.3–7.6 mmol/l), is described. The patient presented with psychomotor retardation and dystrophy. His skeletal age was delayed. The EEG was not well differentiated; it resembled that observed in 2‐year‐old children. There was a severe anaemia, which reacted well to iron supplements. The 2‐hydroxyglutaric acid was found to have the l ‐configuration, as analysed by capillary gas chromatography of the O ‐acetylated di‐(‐)‐2‐butyl ester derivative. The relation of l ‐2‐hydroxyglutarate excretion to known metabolic pathways is discussed.