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Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Brun, L.
Ngu, L. H.
Keng, W. T.
Ch'ng, G. S.
Choy, Y. S.
Hwu, W. L.
Lee, W. T.
Willemsen, M A A. P.
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Published in Neurology. 2010, vol. 75, no. 1, p. 64-71
Abstract OBJECTIVE: To describe the current treatment; clinical, biochemical, and molecular findings; and clinical follow-up of patients with aromatic l-amino acid decarboxylase (AADC) deficiency. METHOD: Clinical and biochemical data of 78 patients with AADC deficiency were tabulated in a database of pediatric neurotransmitter disorders (JAKE). A total of 46 patients have been previously reported; 32 patients are described for the first time. RESULTS: In 96% of AADC-deficient patients, symptoms (hypotonia 95%, oculogyric crises 86%, and developmental retardation 63%) became clinically evident during infancy or childhood. Laboratory diagnosis is based on typical CSF markers (low homovanillic acid, 5-hydroxyindoleacidic acid, and 3-methoxy-4-hydroxyphenolglycole, and elevated 3-O-methyl-l-dopa, l-dopa, and 5-hydroxytryptophan), absent plasma AADC activity, or elevated urinary vanillactic acid. A total of 24 mutations in the DDC gene were detected in 49 patients (8 reported for the first time: p.L38P, p.Y79C, p.A110Q, p.G123R, p.I42fs, c.876G>A, p.R412W, p.I433fs) with IVS6+ 4A>T being the most common one (allele frequency 45%). CONCLUSION: Based on clinical symptoms, CSF neurotransmitters profile is highly indicative for the diagnosis of aromatic l-amino acid decarboxylase deficiency. Treatment options are limited, in many cases not beneficial, and prognosis is uncertain. Only 15 patients with a relatively mild form clearly improved on a combined therapy with pyridoxine (B6)/pyridoxal phosphate, dopamine agonists, and monoamine oxidase B inhibitors.
Keywords AdolescentAromatic-L-Amino-Acid Decarboxylases/*cerebrospinal fluid/*deficiencyBiological Markers/cerebrospinal fluidChildChild, PreschoolFollow-Up StudiesHumansInfantNeurotransmitter Agents/cerebrospinal fluid/deficiencyYoung Adult
PMID: 20505134
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Research group Gastroentérologie et transplantation (pédiatrie) (181)
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BRUN, L. et al. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. In: Neurology, 2010, vol. 75, n° 1, p. 64-71. https://archive-ouverte.unige.ch/unige:20808

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Deposited on : 2012-05-23

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