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3‐Hydroxy‐3‐methylglutaric aciduria combined with 3‐methylglutaconic aciduria: A new case
Author(s) -
Divry P.,
Rolland M. O.,
Teyssier J.,
Cotte J.,
Formosinho Fernandes M. C.,
Tavares de Almeida I.,
Silveira C.
Publication year - 1981
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/bf02263646
Subject(s) - leucine , chemistry , urinary system , endocrinology , medicine , mass spectrometry , biochemistry , amino acid , chromatography
The urinary organic acids of a new case of 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency have been analysed by gas chromatography‐mass spectrometry. This patient's fibroblasts showed a reduced ability to oxidize leucine.
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