Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies

Neuropediatrics

Volumn 33, Issue 4, 2002, Pages 203-208

  Fiumara, Agata ^a   Brautigam C ^a   Hyland, K ^a   Sharma, R ^a   Lagae, L ^a   Stoltenborg, B ^a   Hoffmann, G F ^a   Jaeken, J ^a   Wevers, R A ^a  

^a UNIVERSITY OF CATANIA   (Italy)

Author keywords

Aromatic L amino acid decarboxylase deficiency; Hyperdopaminuria; L dopa; Neurotransmitters

Indexed keywords

3 O METHYLDOPA; 4 HYDROXY 3 METHOXYPHENYLETHYLENE GLYCOL; 5 HYDROXYINDOLEACETIC ACID; 5 HYDROXYTRYPTOPHAN; AROMATIC LEVO AMINO ACID DECARBOXYLASE; BROMOCRIPTINE; CABERGOLINE; CARBIDOPA; DOPAMINE RECEPTOR STIMULATING AGENT; HOMOVANILLIC ACID; LEVODOPA; MONOAMINE OXIDASE INHIBITOR; PYRIDOXINE; SELEGILINE; TRIHEXYPHENIDYL;

AMINO ACID URINE LEVEL; AROMATIC LEVO AMINO ACID DECARBOXYLASE DEFICIENCY; ARTICLE; BRAIN LEVEL; CASE REPORT; CHOREOATHETOSIS; CLINICAL FEATURE; DISEASE COURSE; DOPAMINE METABOLISM; DOPAMINE URINE LEVEL; DRUG BLOOD LEVEL; DYSTONIA; ENZYME DEFICIENCY; HUMAN; INBORN ERROR OF METABOLISM; INFANT; LABORATORY DIAGNOSIS; MALE; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NEUROTRANSMISSION; PRESCHOOL CHILD; PRIORITY JOURNAL; TREATMENT OUTCOME; URINARY EXCRETION;

AROMATIC-L-AMINO-ACID DECARBOXYLASES; CHILD; CHILD, PRESCHOOL; DOPAMINE; HUMANS; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS;

EID: 0036695861     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2002-34497     Document Type: Article

References (12)

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