Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

Molecular Genetics and Metabolism

Volumn 88, Issue 1, 2006, Pages 47-52

  Wortmann, S ^a   Rodenburg, R J T ^a   Huizing, M ^b   Loupatty, F J ^c   de Koning, T ^d   Kluijtmans, L A J ^a   Engelke, U ^a   Wevers, R ^a   Smeitink, J A M ^a   Morava, E ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

3MGA; Extrapyramidal; Hypoglycemia; Lactic acidemia; Leigh like syndrome; Mitochondrial; Sensori neural deafness

Indexed keywords

3 METHYLGLUTACONIC ACID; 3 METHYLGLUTACONYL COENZYME A HYDRATASE; CARDIOLIPIN; HYDROLYASE; UNCLASSIFIED DRUG;

3 METHYLGLUTACONIC ACIDURIA; ACIDURIA; ARTICLE; BARTH SYNDROME; BIOCHEMISTRY; BRAIN DISEASE; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; COSTEFF SYNDROME; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ANALYSIS; ENZYME BLOOD LEVEL; EXTRAPYRAMIDAL SYNDROME; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; GENE; GENETIC ANALYSIS; GROWTH RETARDATION; HUMAN; HYPOGLYCEMIA; LACTIC ACIDEMIA; LEIGH DISEASE; METABOLIC DISORDER; MUSCLE HYPOTONIA; NEWBORN DISEASE; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NUCLEOTIDE SEQUENCE; OPA3 GENE; OXIDATIVE PHOSPHORYLATION; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RECURRENT DISEASE; RECURRENT INFECTION; SPASTICITY; URINALYSIS; URINARY EXCRETION;

ADOLESCENT; BRAIN DISEASES, METABOLIC; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FATAL OUTCOME; FEMALE; GLUTARATES; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT, NEWBORN; LEIGH DISEASE; MALE; MITOCHONDRIAL DISEASES; OXIDATIVE PHOSPHORYLATION; SYNDROME; VALERATES;

EID: 33646024913     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.01.013     Document Type: Article

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