Glutaric aciduria type I (GA-I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a deficiency of glutaryl-CoA dehydrogenase. Glutaric, 3-OH-glutaric, and glutaconic acids are excreted in the urine, particularly during intercurrent illness. The enzyme may be assayed in leukocytes, cultured fibroblasts and chorionic villi. Twelve new cases, 9 months-16 years of age, are reported, comprising all known cases of GA-I in Sweden and Norway. Ten had a severe dystonic-dyskinetic disorder, one had a mild hyperkinetic disorder, and one was asymptomatic. Two children died in a state of hyperthermia. Carnitine deficiency and malnutrition developed in patients with severe dystonia and dysphagia, which necessitated substitution and gastrostomy. A slowly progressive dyskinetic disorder developed in spite of adequate early dietary treatment in one subject. Macrocephaly was found in three. Computed tomography and magnetic resonance investigations in 10 showed deep bitemporal spaces in 7. Neuropsychological testing of 8 of 12 subjects demonstrated receptive language function to be superior to expressive language and motor function. Cognitive functions were obviously less affected than motor functions. A review of 57 pooled cases showed that a severe dystonic syndrome developed in 77%, a mild extrapyramidal syndrome in 10%, and 12% were asymptomatic. This disorder may pass undetected in the cerebral palsy and mentally retarded child and adult populations. Repeated urine examinations of organic acids in the urine and enzyme assay may be necessary to confirm GA-I.

The cognitive and psychosocial functions of 16 children with brain tumor, treated with wholebrain or local radiotherapy, were studied. Fifteen nonirradiated children with acute lymphatic leukemia (ALL) served as a comparison group. Mean Wechsler Intelligence Scale for Children--Revised Full Scale IQ score and mean Visual-Motor Integration Test (Beery VMI) standard score were significantly decreased in the brain tumor group. The Achenbach checklists were filled in by mothers (Child Behavior Checklist, CBCL) and teachers (Teacher's Report Form). Overall adjustment was rated lower in the children with brain tumor. Although most of the children in the ALL group were well adapted, one third of them had low CBCL Social Competence scores relative to nonclinical norms. On a visual analog scale a significantly decreased tempo was assessed by mothers and teachers in the children with brain tumor, and low speed and hypoactivity seemed to limit the majority of these children in school and daily life activities.

Fifteen 7-16-year-old patients, treated in 1981-1984 for acute lymphoblastic leukemia (ALL) in first complete remission, were studied. As a central nervous system prophylaxis, all the children were treated with repeated methotrexate (MTX) instillations, but none were irradiated. The study protocol included magnetic resonance (MR) and a battery of neuropsychological tests. Small, punctate white-matter lesions were found by MR in eight children, probably minor vascular lesions. All the children were within normal intelligence range with a mean total WISC-R IQ of 109. Minor neuropsychologic problems were found in two patients, while one child showed a more extensive specific learning disorder in school.

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