HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders

American Journal of Medical Genetics, Part A

Volumn 164, Issue 12, 2014, Pages 3162-3169

  Reuter, Miriam S ^a   Sass, Jörn Oliver ^b   Leis, Thomas ^a   Köhler, Julia ^a   Mayr, Johannes A ^c   Feichtinger, René G ^c   Rauh, Manfred ^a   Schanze, Ina ^d   Bähr, Luzy ^b   Trollmann, Regina ^a   Uebe, Steffen ^a   Ekici, Arif B ^a   Reis, André ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c PARACELSUS MEDICAL UNIVERSITY   (Austria)

^d OTTO VON GUERICKE UNIVERSITY   (Germany)

Author keywords

HIBCH deficiency; Leigh like hyperintensities; Mitochondrial disorders; Valine metabolism

Indexed keywords

3 HYDROXYISOBUTYRYL COENZYME A HYDROLASE; ACETYL COENZYME A HYDROLASE; GENOMIC DNA; LACTIC ACID; MITOCHONDRIAL DNA; UNCLASSIFIED DRUG; THIOL ESTER HYDROLASE;

3 HYDROXYISOBUTYRYL COENZYME A HYDROLASE DEFICIENCY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASAL GANGLION; BLINDNESS; BRAIN ATROPHY; BRAIN DISEASE; BRAIN SIZE; CASE REPORT; CHILD; CHROMOSOME 2; CLINICAL FEATURE; CONVERGENT STRABISMUS; COORDINATION DISORDER; CRYPTORCHISM; DEVELOPMENTAL DISORDER; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; EXOME; FEEDING DISORDER; GENE; GENERALIZED EPILEPSY; HETEROZYGOSITY; HIBCH GENE; HOMOZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; INFANT; KARYOTYPING; LACTATE BLOOD LEVEL; MALE; MITOCHONDRIAL DNA DEPLETION SYNDROME; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; STOMACH TUBE; BRAIN; DEFICIENCY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DNA SEQUENCE; FIBROBLAST; GENETICS; METABOLISM; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE; PROCEDURES; SKELETAL MUSCLE; WESTERN BLOTTING;

ABNORMALITIES, MULTIPLE; AMINO ACID METABOLISM, INBORN ERRORS; BASE SEQUENCE; BLOTTING, WESTERN; BRAIN; EXOME; FIBROBLASTS; HUMANS; MAGNETIC RESONANCE IMAGING; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; THIOLESTER HYDROLASES;

EID: 84911167142     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36766     Document Type: Article

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