Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease

Molecular Genetics and Metabolism Reports

Volumn 1, Issue 1, 2014, Pages 368-372

  Sremba, L J ^a   Chang, R C ^a,b   Elbalalesy, N M ^a,b   Cambray Forker, E J ^a   Abdenur, J E ^a,b  

^a Division of Metabolic Disorders CHOC Children's ^*  (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Basal ganglia; Biotin thiamine responsive basal ganglia disease; BTBGD; Leigh syndrome; SLC19A3; Thiamine transporter 2

Indexed keywords

2 OXOGLUTARIC ACID; BIOLOGICAL MARKER; CARNITINE; CORTICOTROPIN; LACTIC ACID; PHENOBARBITAL; PYRIDOXINE; RIBOFLAVIN; SLC19A3 PROTEIN; THIAMINE; UBIDECARENONE; UNCLASSIFIED DRUG; PYRUVATE DEHYDROGENASE COMPLEX;

APNEA; ARTICLE; ARTIFICIAL VENTILATION; BIOTIN THIAMINE RESPONSIVE BASAL GANGLIA DISEASE; BRAIN ATROPHY; CASE REPORT; DEATH; DIFFERENTIAL DIAGNOSIS; DRUG TREATMENT FAILURE; EPILEPTIC DISCHARGE; EUROPEAN; EXOME; FEEDING BEHAVIOR; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HETEROZYGOTE; HUMAN; HYPERREFLEXIA; HYPSARRHYTHMIA; INFANT; INFANTILE SPASM; LACTATE BLOOD LEVEL; LEIGH DISEASE; LENNOX GASTAUT SYNDROME; LETHARGY; METABOLIC DISORDER; MEXICAN; MICROCEPHALY; MUSCLE HYPOTONIA; MUSCLE TONE; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; RESPIRATORY TRACT DISEASE; AWARENESS; CEREBROSPINAL FLUID; CHEMICAL ANALYSIS; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEEDING APPARATUS; GENE; NEUROIMAGING; NEUROLOGIC DISEASE; NEWBORN; SEIZURE; SLC19A3 GENE; TRACHEOTOMY;

EID: 84916603119     PISSN: None     EISSN: 22144269     Source Type: Journal    
DOI: 10.1016/j.ymgmr.2014.07.008     Document Type: Article

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