Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: A gene involved in valine metabolism

Pediatric Neurology

Volumn 52, Issue 3, 2015, Pages 361-365

  Soler Alfonso, Claudia ^a   Enns, Gregory M ^b   Koenig, Mary Kay ^a   Saavedra, Heather ^a   Bonfante Mejia, Eliana ^a   Northrup, Hope ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b STANFORD UNIVERSITY   (United States)

Author keywords

HIBCH; inborn error of metabolism; Leigh syndrome; valine; whole exome sequencing

Indexed keywords

3 HYDROXYISOBUTYRYL COENZYME A HYDROLASE; BICARBONATE; HYDROLASE; LACTIC ACID; UNCLASSIFIED DRUG; VALINE; THIOL ESTER HYDROLASE;

ACIDOSIS; AMINO ACID METABOLISM; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DAMAGE; CASE REPORT; CATABOLISM; CAUDATE NUCLEUS; CHILD; DEVELOPMENTAL DISORDER; DIET RESTRICTION; DISEASE SEVERITY; FACE DYSMORPHIA; FAILURE TO THRIVE; FEEDING DIFFICULTY; FEMALE; FEVER; GENE IDENTIFICATION; GENE MUTATION; GLOBUS PALLIDUS; HETEROZYGOTE; HUMAN; JOINT LAXITY; LEIGH DISEASE; LETHARGY; LOW SET EAR; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE TONE; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NYSTAGMUS; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; PUTAMEN; REMISSION; RESPIRATORY TRACT DISEASE; SPASTICITY; BRAIN; FAMILY HEALTH; GENETICS; MUTATION; PATHOLOGY;

BRAIN; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; HUMANS; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MUTATION; THIOLESTER HYDROLASES; VALINE;

EID: 84923261130     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2014.10.023     Document Type: Article

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