Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: Identification through whole exome sequencing and management strategies

Molecular Genetics and Metabolism Reports

Volumn 1, Issue 1, 2014, Pages 66-70

  Fraser, Jamie L ^a,b   Vanderver, Adeline ^a   Yang, Sandra ^a   Chang, Taeun ^a   Cramp, Laura ^a   Vezina, Gilbert ^a   Lichter Konecki, Uta ^a   Cusmano Ozog, Kristina P ^a   Smpokou, Patroula ^a   Chapman, Kimberly A ^a   Zand, Dina J ^a  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Leigh like disease; Mitochondrial disorder; Thiamine; Thiamine pyrophosphokinase; Ketoglutarate

Indexed keywords

BIOTIN; NICOTINIC ACID; THIAMINE; THIAMINE PYROPHOSPHOKINASE; THIOCTIC ACID; 2 OXOGLUTARIC ACID; ACELLULAR VACCINE; ACYLCARNITINE; FUMARIC ACID; GLUTARIC ACID; INFLUENZA VACCINE; LACTIC ACID; MEASLES MUMPS RUBELLA VACCINE; MITOCHONDRIAL DNA; PYRUVATE CARBOXYLASE; PYRUVATE DEHYDROGENASE; VERY LONG CHAIN FATTY ACID;

ARTICLE; AUTOPSY; BULBAR PARALYSIS; CASE REPORT; CEREBROVASCULAR ACCIDENT; CESAREAN SECTION; CHRONIC BRAIN DISEASE; COMA; DEVELOPMENTAL DISORDER; DIET SUPPLEMENTATION; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXOME; FATIGUE; FEVER; HUMAN; INTRACTABLE EPILEPSY; KETOGENIC DIET; LEIGH DISEASE; LETHARGY; MOLECULAR DIAGNOSIS; MULTIPLE ORGAN FAILURE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUTRITIONAL STATUS; PHENOTYPE; SEQUENCE ANALYSIS; SIBLING; THIAMINE PYROPHOSPHOKINASE DEFICIENCY; WEAKNESS; ALERTNESS; CHILD; CITRIC ACID CYCLE; CONSANGUINITY; ELECTRON TRANSPORT; ENZYME DEFICIENCY; FEMALE; HOMOZYGOSITY; HYPERSALIVATION; LACTIC ACIDOSIS; MALE; MISSENSE MUTATION; NOSE FEEDING; PRESCHOOL CHILD; REHYDRATION; THALAMUS; THIAMINE PYROPHOSPHOKINASE CIENCY;

EID: 84905187367     PISSN: None     EISSN: 22144269     Source Type: Journal    
DOI: 10.1016/j.ymgmr.2013.12.007     Document Type: Article

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