[Glutaric aciduria type 1: an example of the importance of early detection of so-called cerebral organic aciduria].
Glutaric aciduria type 1 (GA 1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic-dyskinetic disorder. Typically between 6 and 18 months of age, a non-specific illness such as respiratory or gastrointestinal infection or immunization leads to encephalopathic crisis, usually resulting in degeneration of the putamen and caudate. GA 1 is an autosomal recessive disease of catabolism of amino acids lysine, hydroxylysine and tryptophane leading to accumulation of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid. Recognition of this biochemical disorder before the brain has been injured is essential to the outcome. Diagnosis depends upon the recognition of relatively non-specific physical findings such as hypotonia, tremor, irritability and macrocephaly, and on urinary organic acids analysis. The diagnosis may also be suggested by characteristic findings of neuroimaging. Specific management includes pharmacological doses of 1-carnitine and dietary protein restriction. Metabolic decompensation must be treated vigorously to avoid permanent brain damage. With this case report the authors want to contribute to the early recognition of GA1, to the prevention of the related brain damage, and to increase awareness of the existence of so-called cerebral organic acidurias.
Barić
Ivo
I
Zavod za genetiku i bolesti metabolizma, Referentni centar Ministarstva zdravstva Republike Hrvatske za genetiku i bolesti metabolizma u djece, Klinika za pedijatriju Klinickoga bolnickog centra, Kispatićeva 12, 10 000 Zagreb.
Baraka
Kresimir
K
Maradin
Miljenka
M
Bartonicek
Dorotea
D
Sarnavka
Vladimir
V
Begović
Davor
D
Fumić
Ksenija
K
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D001925:Brain Damage, Chronic / Q000209:etiology / Q000517:prevention & control; D003937:Diagnosis, Differential; D005977:Glutarates / Q000652:urine*; D006801:Humans; D006901:Hydroxylysine / Q000378:metabolism; D007223:Infant; D008239:Lysine / Q000378:metabolism; D008297:Male; D014364:Tryptophan / Q000378:metabolism
D005977:Glutarates; D006901:Hydroxylysine; D014364:Tryptophan; C035736:glutaric acid; D008239:Lysine