Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family.

Maller A, Hyland K, Milstien S, Biaggioni I, Butler IJ
J Child Neurol. 1997 12 (6): 349-54

PMID: 9309516 · DOI:10.1177/088307389701200602

Aromatic L-amino acid decarboxylase deficiency is an inborn error of metabolism that leads to combined serotonin and catecholamine deficiency, first described by Hyland et al in 1990. The clinical features, biochemical findings, and treatment of the second family with this condition are reported. Our male patient presented with developmental delay, extreme hypotonia, oculogyric crises, and irritability. The diagnosis of this inborn error of biogenic amine metabolism was accomplished by determining low concentrations of homovanillic, 5-hydroxyindoleacetic acid, and 3-methoxy-4-hydroxyphenyl-ethyleneglycol in cerebrospinal fluid with normal biopterin metabolism and increased L-dopa, in plasma, cerebrospinal fluid, and urine. Greatly reduced activity of aromatic L-amino acid decarboxylase in plasma confirmed this diagnosis. Combined treatment with pyridoxine, tranylcypromine, and bromocriptine produced some clinical improvement.

MeSH Terms (17)

5-Hydroxytryptophan Amino Acids, Cyclic Aromatic-L-Amino-Acid Decarboxylases Biogenic Monoamines Child, Preschool Consanguinity Developmental Disabilities Homovanillic Acid Humans Hydroxyindoleacetic Acid Iran Levodopa Longitudinal Studies Male Methoxyhydroxyphenylglycol Muscle Hypotonia Pyridoxine

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