Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the e1α subunit gene (PDHA1)

Neuropediatrics

Volumn 45, Issue 1, 2014, Pages 56-60

  Steller, J ^a,b   Gargus, J J ^a,b   Gibbs, L H ^c   Hasso, A N ^c   Kimonis, V E ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

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

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

ataxia; complex deficiency; lactic acidosis; neuropathy; pyruvate dehydrogenase

Indexed keywords

ALANINE; AMINO ACID; AZITHROMYCIN; BUTYRIC ACID; CARBOHYDRATE; CITRATE SODIUM; COCARBOXYLASE; ETIRACETAM; FAT; LACTIC ACID; METHYLPHENIDATE; PROLINE; PROTEIN; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVIC ACID; THIAMINE;

ADOLESCENT; ARTICLE; ATTENTION DEFICIT DISORDER; BRAIN NECROSIS; BRAIN STEM; CASE REPORT; CEREBELLUM DISEASE; CEREBRAL PEDUNCLE; CEREBROVASCULAR ACCIDENT; COMMUNICATION DISORDER; COMPUTER ASSISTED TOMOGRAPHY; CONFUSION; CORPUS CALLOSUM; DISEASE SEVERITY; EMERGENCY WARD; ENZYME ACTIVITY; EXON; FEVER; GENE; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GLOBUS PALLIDUS; HEMISPHERE; HEMIZYGOSITY; HOSPITAL ADMISSION; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; INTENSIVE CARE UNIT; KETOGENIC DIET; LACTIC ACIDOSIS; LATERAL BRAIN VENTRICLE; MALE; MEDICAL HISTORY; METABOLIC DISORDER; MIDDLE CEREBELLAR PEDUNCLE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PERTUSSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RELAPSE; RESPIRATORY DISTRESS; SEIZURE; SEPTUM PELLUCIDUM; SKIN FIBROBLAST; STUTTERING; UPPER RESPIRATORY TRACT INFECTION; VERBAL COMMUNICATION; WALKING DIFFICULTY; WHITE MATTER; X LINKED E1 ALPHA SUBUNIT GENE;

ADOLESCENT; EXONS; FOLLOW-UP STUDIES; HUMANS; MALE; MUTATION; PHENOTYPE; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE;

EID: 84893686324     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0033-1341601     Document Type: Article

References (10)

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