Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

Molecular Genetics and Metabolism

Volumn 115, Issue 4, 2015, Pages 161-167

  Stiles, Ashlee R ^a   Ferdinandusse, Sacha ^b   Besse, Arnaud ^c   Appadurai, Vivek ^c   Leydiker, Karen B ^a   Cambray Forker, E J ^a   Bonnen, Penelope E ^c   Abdenur, Jose E ^a,d  

^a CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

HIBCH deficiency; Hydroxy C4 carnitine; Leigh syndrome; Newborn screening; Valine metabolism

Indexed keywords

3 HYDROXYISOBUTRYL COA HYDROLASE; ACYLCARNITINE; CARNITINE; HYDROXY C4 CARNITINE; OXYGENASE; UNCLASSIFIED DRUG; HYDROXYBUTYRYLCARNITINE; THIOL ESTER HYDROLASE;

3 HYDROXYISOBUTRYL COA HYDROLASE DEFICIENCY; ADOLESCENT; ARTICLE; BASAL GANGLION; BLOOD LEVEL; BRAIN ATROPHY; CASE REPORT; CAUDATE NUCLEUS; CEREBRAL PEDUNCLE; CHILD; CHILD DEVELOPMENT; CONSANGUINITY; CONTROLLED STUDY; DEGENERATIVE DISEASE; DIFFERENTIAL DIAGNOSIS; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DRIED BLOOD SPOT TESTING; ELECTROSPRAY MASS SPECTROMETRY; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; EXOME; FAILURE TO THRIVE; FAMILY; FEMALE; FIBROBLAST; GENOME ANALYSIS; GLOBUS PALLIDUS; HOMOZYGOTE; HUMAN; HUMAN CELL; INCIDENCE; INFANT; LABORATORY TEST; LEIGH DISEASE; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MORBIDITY; NEUROLOGIC EXAMINATION; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ONSET AGE; OPTIC NERVE ATROPHY; PEDIGREE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SIBLING; TANDEM MASS SPECTROMETRY; WHITE MATTER; ABNORMALITIES, MULTIPLE; AMINO ACID METABOLISM, INBORN ERRORS; ANALOGS AND DERIVATIVES; CHEMISTRY; COHORT ANALYSIS; DEFICIENCY; DNA SEQUENCE; ENZYMOLOGY; MASS SPECTROMETRY; METABOLISM; NEWBORN; PRESCHOOL CHILD; PROGNOSIS;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AMINO ACID METABOLISM, INBORN ERRORS; CARNITINE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; EXOME; FEMALE; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; LEIGH DISEASE; MALE; MASS SPECTROMETRY; NEONATAL SCREENING; PROGNOSIS; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA; SIBLINGS; THIOLESTER HYDROLASES;

EID: 84938205337     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2015.05.008     Document Type: Article

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