Aromatic L-aminoacid decarboxylase deficiency: Unusual neonatal presentation and additional findings in organic acid analysis

Molecular Genetics and Metabolism

Volumn 87, Issue 1, 2006, Pages 48-53

  Abdenur, Jose E ^a   Abeling, Nico ^b   Specola, Norma ^c   Jorge, Lia ^c   Schenone, Andrea B ^c   Van Cruchten, Arno C ^b   Chamoles, Nestor A ^c  

^a CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c FESEN   (Argentina)

Author keywords

AADC; Aromatic L aminoacid decarboxylase; Hypoglycemia; N Acetyl tyrosine; N Acetyl vanilalanine; Neurotransmitters; Organic acids; Vanillactic; Vanylpyruvic

Indexed keywords

4 HYDROXY 3 METHOXYPHENYLETHYLENE GLYCOL; 4 HYDROXY 3 METHOXYPHENYLLACTIC ACID; 5 HYDROXYINDOLEACETIC ACID; ACYLCARNITINE; ACYLTRANSFERASE; ALANINE DERIVATIVE; AMINOTRANSFERASE; AMMONIA; AROMATIC LEVO AMINO ACID DECARBOXYLASE; BIOLOGICAL MARKER; CARBOXYLIC ACID; DOPAMINE; HOMOVANILLIC ACID; LACTIC ACID; LACTIC ACID DERIVATIVE; N ACETYLTYROSINE; N ACETYLVANILALANINE; NEUROTRANSMITTER; PYRUVIC ACID DERIVATIVE; TYROSINE; UNCLASSIFIED DRUG; VANILMANDELIC ACID; VANILPYRUVIC ACID;

AMINO ACID BLOOD LEVEL; AMMONIA BLOOD LEVEL; AROMATIC LEVO AMINO ACID DECARBOXYLASE DEFICIENCY; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID; CHEMICAL ANALYSIS; DYSTONIA; ENZYME ACTIVITY; ENZYME DEFICIENCY; FOLLOW UP; HUMAN; HYPOGLYCEMIA; HYPOTHERMIA; LACTATE BLOOD LEVEL; LETHARGY; MALE; METABOLIC ACIDOSIS; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NEWBORN; NEWBORN PERIOD; OCULOGYRIC CRISIS; PRIORITY JOURNAL; PROTEIN DEFICIENCY; URINALYSIS;

AROMATIC-L-AMINO-ACID DECARBOXYLASES; BIOGENIC AMINES; BIOLOGICAL MARKERS; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; HOMOVANILLIC ACID; HUMANS; INFANT, NEWBORN; MALE; MODELS, BIOLOGICAL; PREGNANCY; VITAMIN B 6;

EID: 29344432053     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.09.007     Document Type: Article

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