title: [Macrocephaly and dystonic cerebral palsy in a child with type I glutaric aciduria].
abstract: In a male infant with macrocephaly and dystonic cerebral palsy glutaric aciduria type I was detected by analysis of urine for organic acids. Glutaric aciduria type I is an inherited metabolic disorder of organic acids due to a defect of glutaryl-CoA-dehydrogenase in the intermediate metabolic step of lysine and tryptophan degradation. In the urine glutaric acid is usually accompanied by 3-hydroxy-glutaric acid in abnormal quantities. The enzyme defect in our patient was proved in cultured fibroblasts. In the cerebral computer tomography marked atrophy of bilateral frontotemporal regions could be demonstrated. The amount of urinary glutarat excretion decreased after protein but especially after lysine and tryptophan restriction in the diet. The administration of carnitine improved carnitine levels in blood and urine. Although the progression of neurological impairment could be stopped, dystonia and dyskinesis remained nearly unaltered. In spite of severe motor retardation, recognition and vocalisation were established. In the two year old patient mental retardation is relatively mild comparing with motor retardation. The administration of 100 or 200 mg Riboflavin/day was stopped, as it did not alter clinical symptoms or excretion of glutarat. Baclofen, an analogue of gamma-amino-butyric acid, was orally given (2 mg/kg/day) and improved dystonia, but did not influence organic aciduria. The neurological manifestations may be due in part to inhibition of neuronal glutamat decarboxylase by glutaric acid with decreased gamma-amino-butyric acid biosynthesis. The characteristic clinical symptoms with macrocephaly and dystonia and the very typical pattern of organic acids in urine are a challenge for rapid diagnosis and therapy.
authors.affiliation: Kinderspital Landeskrankenanstalten Salzburg.
authors.forename: E
authors.initials: E
authors.lastname: Plöchl
authors.forename: E
authors.initials: E
authors.lastname: Christensen
authors.forename: J P
authors.initials: JP
authors.lastname: Colombo
authors.forename: P
authors.initials: P
authors.lastname: Weiss-Wichert
authors.forename: E
authors.initials: E
authors.lastname: Wenger
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D000596:Amino Acids / Q000008:administration & dosage; D002508:Cephalometry; D002547:Cerebral Palsy / Q000175:diagnosis / Q000235:genetics*; D004044:Dietary Proteins / Q000008:administration & dosage; D005977:Glutarates / Q000008:administration & dosage / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency* / Q000235:genetics; D044925:Oxidoreductases Acting on CH-CH Group Donors; D012886:Skull / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed
chemical_list: D000596:Amino Acids; D004044:Dietary Proteins; D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid
vernacular_title: Makrozephalie und dystone Zerebralparese bei einem Kind mit Glutarazidurie Typ I.