当前位置： SCI文献检索 > JOURNAL OF INHERITED METABOLIC DISEASE期刊下所有文献 > Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.

Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.

Abstract：

BACKGROUND:Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of biogenic amine metabolism resulting in generalized combined deficiency of serotonin, dopamine and catecholamines. Main clinical features are developmental delay, muscular hypotonia, dystonia, oculogyric crises and additional extraneurological symptoms. Response to therapy has been variable and unsatisfactory; the overall prognosis is guarded. METHODS:To gain more insight into this rare disorder we collected clinical and laboratory data of nine German patients. All patients were clinically examined by one investigator, and their responses to different drug regimes were evaluated by the patients' charts. RESULTS:Symptoms were obvious from early infancy. Later, main neurological features were truncal muscular hypotonia, hypokinesia, oculogyric crises and rigor. Three patients had single seizures. All patients presented distinct extraneurological symptoms, such as hypersalivation, hyperhidrosis, nasal congestion, sleep disturbances and hypoglycaemia. In CSF all patients revealed the pattern typical of AADC with decreased concentrations of homovanillic and 5-hydroxyindoleacetic acid and elevated concentration of 3-ortho-methyldopa. Diagnosis was confirmed by measurement of AADC activity in plasma in all patients. Drug regimes consisted of vitamin B6, dopamine agonists, MAO inhibitors and anticholinergics in different combinations. No patient achieved a complete recovery from neurological symptoms, but partial improvement of mobility and mood could be achieved in some. CONCLUSION:AADC deficiency is a severe neurometabolic disorder, characterized by muscular hypotonia, dystonia, oculogyric crises and additional extraneurological symptoms. Medical treatment is challenging, but a systematic trial of the different drugs is worthwhile.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Manegold C,Hoffmann GF,Degen I,Ikonomidou H,Knust A,Laass MW,Pritsch M,Wilichowski E,Hörster F

doi

10.1007/s10545-009-1076-1

subject

Has Abstract

pub_date

2009-06-01 00:00:00

pages

371-80

issue

eissn

0141-8955

issn

1573-2665

journal_volume

pub_type

杂志文章

在线工具

Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up.