The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin

Neuropediatrics

Volumn 37, Issue 2, 2006, Pages 72-78

  Friebel, D ^a   Von Der Hagen, M ^a   Baumgartner, E R ^b   Fowler, B ^b   Hahn, G ^a   Feyh, P ^c   Heubner, G ^a   Baumgartner, M R ^d   Hoffmann, Georg F ^c  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

3 MCC; 3 Methylcrotonyl CoA carboxylase deficiency; Biotin responsive; Infantile spasms; Psychomotor retardation

Indexed keywords

ARGININE; BIOTIN; BIOTINIDASE; CARBOXYLASE; CARNITINE; CORTICOSTEROID; DIAZEPAM; LAMOTRIGINE; MALTODEXTRIN; METHYLCROTONOYL COENZYME A CARBOXYLASE; PHENOBARBITAL; PYRIDOXINE; SERINE; VALPROIC ACID; VIGABATRIN;

ACIDURIA; ARTICLE; CASE REPORT; CAUCASIAN; CEREBROSPINAL FLUID ANALYSIS; CLINICAL FEATURE; DIET RESTRICTION; DISEASE SEVERITY; DOSE RESPONSE; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; ENZYME DEFICIENCY; FIBROBLAST; HETEROZYGOSITY; HUMAN; HYPSARRHYTHMIA; INFANTILE SPASM; MALE; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN DIET; PROTEINURIA; PSYCHOMOTOR RETARDATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEIZURE; SPIKE WAVE; URINALYSIS;

BIOTIN; CARBON-CARBON LIGASES; CHILD; CHILD, PRESCHOOL; FOLLOW-UP STUDIES; HUMANS; MALE; METABOLISM, INBORN ERRORS; MUTATION, MISSENSE; TREATMENT OUTCOME; VITAMIN B COMPLEX;

EID: 33745568226     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2006-924024     Document Type: Article

References (18)

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