This paper describes the relevance of measuring biogenic amine metabolites in cerebrospinal fluid in order to detect inborn errors affecting catecholamines and serotonin biosynthesis. Defects in tetrahydrobiopterin and a deficiency of aromatic L-amino acid decarboxylase, tyrosine hydroxylase or dopamine-b-hydroxylase are candidate inborn errors for neurotransmitter matabolites screening. This investigation has to be considered in any child with motor retardation and extrapyramidal signs.
Kaufman Set al. (1975) Phenylketonuria due to deficiency of dihydropteridine reductase . N Engl J Med293: 785-790 .
2.
Hyland K. (1993) Abnormalities of biogenic amine metabolism . J Inher Metab Dis16: 676-690 .
3.
Hyland Ket al. (1992) Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis . Neurology42: 1980-1988 .
