Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation

American Journal of Human Genetics

Volumn 89, Issue 6, 2011, Pages 792-797

  Mayr, Johannes A ^a   Zimmermann, Franz A ^a   Fauth, Christine ^b   Bergheim, Christa ^c   Meierhofer, David ^d   Radmayr, Doris ^a   Zschocke, Johannes ^b   Koch, Johannes ^a   Sperl, Wolfgang ^a  

^a PARACELSUS MEDICAL UNIVERSITY   (Austria)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c Marienhausklinik ^*  (Germany)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMIDE; GLYCINE; PHENOBARBITAL; PYRUVATE DEHYDROGENASE; PYRUVIC ACID; THIOCTAMIDE; UNCLASSIFIED DRUG;

ARTICLE; BLOOD LEVEL; CASE REPORT; CHILD; ECHOGRAPHY; ENERGY METABOLISM; ENZYME ACTIVITY; ENZYME DEFICIENCY; EPILEPSY; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; INFANT; LACTIC ACIDOSIS; LIPOIC ACID SYNTHETASE DEFICIENCY; MALE; MITOCHONDRIAL ENERGY METABOLISM; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NEWBORN; OXIDATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; URINE LEVEL;

ABNORMALITIES, MULTIPLE; ACIDOSIS, LACTIC; AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 4; CONSANGUINITY; ENERGY METABOLISM; EPILEPSY; ESCHERICHIA COLI; FATAL OUTCOME; FIBROBLASTS; GENE EXPRESSION; GLYCINE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MALE; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUSCLE HYPOTONIA; MUSCLE, SKELETAL; MUTATION, MISSENSE; PYRUVATE DEHYDROGENASE COMPLEX; SEQUENCE ANALYSIS, DNA; SULFURTRANSFERASES;

EID: 83455253737     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.11.011     Document Type: Article

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