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Aromatic L-Amino Acid Decarboxylase Deficiency: Clinical Features, Diagnosis, and Treatment of a Second Family

University of Texas Health Science Center, Medical School-Houston, Department of Neurology Houston, TX

Keith Hyland, PhD

Institute of Metabolic Disease, Baylor University Medical Center, and University of Texas Southwestern Medical Center, Department of Neurology Dallas, TX

Sheldon Milstien, PhD

NIMH, Laboratory of Cell Biology Bethesda, MD

Italo Biaggioni, MD

Vanderbilt University, Clinical Research Center Nashville, TN

Ian J. Butler, MB, FRACP

University of Texas Health Science Center, Medical School-Houston, Department of Neurology Houston, TX

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. (J Child Neurol 1997;12:349-354).

Journal of Child Neurology, Vol. 12, No. 6, 349-354 (1997)
DOI: 10.1177/088307389701200602


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