EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

Metabolic Brain Disease

Volumn 31, Issue 3, 2016, Pages 717-721

  Danhauser, Katharina ^a   Haack, Tobias B ^b,c   Alhaddad, Bader ^b,c   Melcher, Marlen ^a   Seibt, Annette ^a   Strom, Tim M ^b,c   Meitinger, Thomas ^b,c,d   Klee, Dirk ^e   Mayatepek, Ertan ^a   Prokisch, Holger ^b,c   Distelmaier, Felix ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d Technische Universität München Munich Cluster for Systems Neurology   (Germany)

^e HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

LTBL; Mitochondrial morphology; Mitochondrial translation; OXPHOS; ROS

Indexed keywords

ALANINE; BICARBONATE; CARNITINE; CREATINE KINASE; ENCODING MITOCHONDRIAL GLUTAMYL TRNA SYNTHETASE 2; GLUCOSE; GLUTAMATE TRANSFER RNA LIGASE; LACTIC ACID; MALTODEXTRIN; MEDIUM CHAIN TRIACYLGLYCEROL; PROLINE; REACTIVE OXYGEN METABOLITE; THIAMINE; UNCLASSIFIED DRUG; GLUTAMYL-TRNA SYNTHETASE 2, MITOCHONDRIAL, HUMAN;

ARTICLE; BRAIN; CARDIOPULMONARY INSUFFICIENCY; CARNITINE DEFICIENCY; CASE REPORT; CAUSE OF DEATH; CEREBROSPINAL FLUID; CONTINUOUS INFUSION; CORPUS CALLOSUM AGENESIS; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FIBROBLAST; GENE MUTATION; HUMAN; HYPERVENTILATION; HYPOGLYCEMIA; INBORN ERROR OF METABOLISM; LACTIC ACIDOSIS; MALE; MITOCHONDRION; MOLECULAR GENETICS; NEUROIMAGING; NEWBORN; NEWBORN DISEASE; PH; RECURRENT DISEASE; SERUM; SKIN FIBROBLAST; ULTRASOUND; URINE LEVEL; DIAGNOSTIC IMAGING; ECHOGRAPHY; FATALITY; GENETICS;

ACIDOSIS, LACTIC; AGENESIS OF CORPUS CALLOSUM; BRAIN; FATAL OUTCOME; GLUTAMATE-TRNA LIGASE; HUMANS; HYPOGLYCEMIA; INFANT, NEWBORN; MALE; MITOCHONDRIAL DISEASES; RECURRENCE; ULTRASONOGRAPHY;

EID: 84954431143     PISSN: 08857490     EISSN: 15737365     Source Type: Journal    
DOI: 10.1007/s11011-016-9793-2     Document Type: Article

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