Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.
Neuropediatrics
; 33(4): 203-8, 2002 Aug.
Article
em En
| MEDLINE
| ID: mdl-12368991
ABSTRACT
Aromatic L-amino acid decarboxylase (AADC - E.C. 4.1.1.28) converts L-dopa to dopamine and 5-hydroxytryptophan to serotonin. Inherited deficiency of this enzyme leads to decreased brain levels of these neurotransmitters. Clinically this results in the development of a progressive neurometabolic disorder characterized by severe hypotonia, dystonic and choreoathetoid movements, oculogyric crises, and hypothermia from infancy. Here we describe the clinical, biochemical and molecular details of two affected brothers, one of whom, despite the lack of AADC, presented with hyperdopaminuria. In addition, we detail his reactions to treatment with dopaminergic agonists, monoamine oxidase inhibitors and pyridoxine.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Descarboxilases de Aminoácido-L-Aromático
/
Dopamina
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Erros Inatos do Metabolismo
Tipo de estudo:
Diagnostic_studies
Limite:
Child
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Child, preschool
/
Humans
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Male
/
Newborn
Idioma:
En
Revista:
Neuropediatrics
Ano de publicação:
2002
Tipo de documento:
Article