Novel mutation (R263X) of the E1 subunit in pyruvate dehydrogenase complex deficiency

Pediatrics International

Volumn 52, Issue 4, 2010, Pages

  Sato, Satoshi ^a   Ioi, Hiroaki ^a   Kashiwagi, Yasuyo ^a   Kawashima, Hisashi ^a   Miyajima, Tasuku ^a   Naito, Etsuo ^b   Hoshika, Akinori ^b  

^a TOKYO MEDICAL UNIVERSITY   (Japan)

^b Japanese Red Cross Society   (Japan)

Author keywords

acidemia; PDHA1; pyruvate dehydrogenase complex; pyruvate dehydrogenase complex deficiency; West syndrome

Indexed keywords

GENOMIC DNA; LACTIC ACID; PYRUVATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE ALPHA SUBUNIT; PYRUVIC ACID; THIAMINE; UNCLASSIFIED DRUG;

APGAR SCORE; ARTICLE; BIRTH WEIGHT; BRAIN CORTEX ATROPHY; BRAIN VENTRICLE DILATATION; CASE REPORT; CEREBROSPINAL FLUID; CORPUS CALLOSUM AGENESIS; DNA SEQUENCE; DRUG CEREBROSPINAL FLUID LEVEL; ELECTROENCEPHALOGRAM; EXON; FEMALE; GENE; HEAD CIRCUMFERENCE; HUMAN; HYDROCEPHALUS; HYPOPLASIA; HYPSARRHYTHMIA; INFANT; LACTATE BLOOD LEVEL; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; R263X GENE; SEIZURE; TREATMENT RESPONSE; UMBILICAL HERNIA; WEST SYNDROME;

ADULT; CODON, NONSENSE; FEMALE; HUMANS; PREGNANCY; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE;

EID: 77955805951     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2010.03112.x     Document Type: Article

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