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Diagnosis and management of glutaric aciduria type I
Author(s) -
Barić I.,
Zschocke J.,
Christensen E.,
Duran M.,
Goodman S. I.,
Leonard J. V.,
Müller E.,
Morton D. H.,
SupertiFurga A.,
Hoffmann G. F.
Publication year - 1998
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 - 10.1023/a:1005390105171
Subject(s) - medicine , hypotonia , dystonia , macrocephaly , putamen , carnitine , pediatrics , cerebral palsy , irritability , glutaric acid , gross motor function classification system , endocrinology , physical therapy , psychiatry , chemistry , menopause , organic chemistry
Glutaric aciduria type I (GA1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic‐dyskinetic disorder that is similar to cerebral palsy and ranges from extreme hypotonia to choreoathetosis to rigidity with spasticity. Degeneration of the putamen and caudate typically occurs between 6 and 18 months of age and is probably linked to changes in metabolic demand caused by normal maturational changes and superimposed catabolic stress. Recognition of this biochemical disorder before the brain has been injured is essential to outcome. Diagnosis depends upon the recognition of relatively nonspecific physical findings such as hypotonia, irritability and macrocephaly, and on performance of urine organic acid quantification by gas chromatography–mass spectrometry or selective searches of urine or blood specimens by tandem mass spectrometry for glutarylcarnitine. The diagnosis may also be suggested by characteristic findings on neuroimaging. In selected patients diagnosis can only be reached by enzyme assay. Specific current management by the authors of this paper includes pharmacological doses of L‐carnitine, as well as dietary protein restriction. Metabolic decompensation must be treated aggressively to avoid permanent brain damage. Multicentre studies are needed to establish best methods of diagnosis and optimal therapy of this disorder.