Aromatic L-amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings

Journal of Inherited Metabolic Disease

Volumn 21, Issue 3, 1998, Pages 240-242

  Abeling, N G G M ^a,c   Van Gennip, A H ^a   Barth, P G ^a   Van Cruchten, A ^a   Westra, M ^b   Wijburg, F A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ZAANS MEDICAL CENTER   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AROMATIC LEVO AMINO ACID DECARBOXYLASE; BIOGENIC AMINE; CATECHOLAMINE; NEUROTRANSMITTER; SEROTONIN;

CASE REPORT; CATECHOLAMINE SYNTHESIS; CHOREOATHETOSIS; CLINICAL FEATURE; CONFERENCE PAPER; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; HUMAN; INFANT; LABORATORY DIAGNOSIS; MUSCLE HYPOTONIA; PRESCHOOL CHILD; SEIZURE;

AMINO ACID METABOLISM, INBORN ERRORS; AROMATIC-L-AMINO-ACID DECARBOXYLASES; BIOGENIC AMINES; DIAGNOSTIC TESTS, ROUTINE; FEMALE; HUMANS; INFANT;

EID: 0031927867     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005307919767     Document Type: Conference Paper

References (4)

1. Abeling NGGM, Van Gennip AH, Overmars H, Voûte PA (1984) Simultaneous determination of catecholamines and metanephrines in urine by HPLC with fluorimetric detection. Clin Chim Acta 137: 211-226.
2. Hyland K, Clayton PT (1990) Aromatic amino acid decarboxylase deficiency in twins. J Inher Metab Dis 13: 301-304.
3. Hyland K, Clayton PT (1992) Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology. Clin Chem 38: 2405-2410.
4. Stroomer AEM, Overmars H, Abeling NGGM, Van Gennip AH (1990) Simultaneous detection of acidic 3,4-dihydroxy-phenylalanine metabolites and 5-hydroxy-indole-3-acetic acid in urine by high-performance liquid chromatography. Clin Clin Acta 36: 1834-1837.