Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 394-402

  DeBrosse, Suzanne D ^a   Okajima, Kazuki ^a,b,c   Zhang, Shulin ^a   Nakouzi, Ghunwa ^a,b   Schmotzer, Christine L ^a   Lusk Kopp, Marilyn ^a,b   Frohnapfel, Mary Beth ^a   Grahame, George ^a,b   Kerr, Douglas S ^a,b  

^a Department of Genetics ^*  (United States)

^b UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^c ASAHIKAWA MEDICAL COLLEGE   (Japan)

Author keywords

Corpus callosum; Hypotonia; Intellectual disability; Ketogenic diet; Leigh syndrome; Seizures

Indexed keywords

CARNITINE; PYRUVATE DEHYDROGENASE; THIAMINE; UBIDECARENONE;

AGENESIS; ARTICLE; ATAXIA; BRAIN MALFORMATION; BRAIN VENTRICLE DILATATION; CHILD; CLINICAL FEATURE; COGNITION; COGNITIVE DEFECT; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; CORRELATION ANALYSIS; DEATH; DEVELOPMENT; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CORRELATION; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; IN VITRO STUDY; INFANCY; INFANT; INFECTION; INTELLECTUAL IMPAIRMENT; INTELLIGENCE; INTELLIGENCE QUOTIENT; KETOGENIC DIET; LACTIC ACIDOSIS; LEIGH DISEASE; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD; MEDICAL RECORD REVIEW; MICROCEPHALY; MORTALITY; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NEWBORN; ONSET AGE; OUTCOME ASSESSMENT; OUTPATIENT DEPARTMENT; PARENT; PERIPHERAL NEUROPATHY; PREVALENCE; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RECURRENCE RISK; RESPIRATORY FAILURE; SCHOOL CHILD; SEIZURE; SEX DIFFERENCE; SIBLING; STRUCTURED INTERVIEW; SUPPLEMENTATION; SURVIVAL; SYMPTOM; X CHROMOSOME LINKED DISORDER;

AUTOANTIGENS; CHILD; CHILD, PRESCHOOL; COGNITION; DIHYDROLIPOYLLYSINE-RESIDUE ACETYLTRANSFERASE; FEMALE; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; INFANT; LEIGH DISEASE; MALE; MITOCHONDRIAL PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX; SEX FACTORS; SURVIVAL RATE;

EID: 84867900559     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.09.001     Document Type: Article

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