1. Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies
- Author
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Radhakant Sharma, K. Hyland, Georg F. Hoffmann, Agata Fiumara, Chad A. Brautigam, B Stoltenborg, Jacques Jaeken, Ron A. Wevers, and Lieven Lagae
- Subjects
Male ,medicine.medical_specialty ,Carboxy-lyases ,Monoamine oxidase ,Dopamine ,Inborn errors of metabolism ,Internal medicine ,medicine ,Humans ,Child ,Erfelijke stofwisselingsziekten ,Aromatic L-amino acid decarboxylase ,business.industry ,Neuromusculaire en neurometabole aandoeningen ,Infant, Newborn ,General Medicine ,Pyridoxine ,Hypotonia ,Endocrinology ,Neuromuscular and neurometabolic disorders ,Dopamine receptor ,Aromatic-L-Amino-Acid Decarboxylases ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Neurology (clinical) ,Serotonin ,medicine.symptom ,business ,Metabolism, Inborn Errors ,medicine.drug - Abstract
Item does not contain fulltext 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.
- Published
- 2002
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