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Summary
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (GPI)
613470
OMIM = Online Medalian Inheritance of Men
712
very rare 35 patients)
autosomal recessive
mutation in the PHI gene
symptoms
anemia
ataxia
gallstones, cholelithiasis
hemolytic anemia
jaundice
muscle weakness
onset, infancy
splenomegaly (large spleen)
laboratory finding
Hemoglobine g/dlblood
Bilirubin +€mol/mlserum
Literature
Fraser JL,et al.Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategiesMol Genet Metab Rep1066-702014
Banka S,et al.Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutationsMol Genet Metab1134301-3062014
McCommis KS,Finck BNMitochondrial pyruvate transport: a historical perspective and future research directionsBiochem J4663443-4542015
Mayr JA,et al.Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathwayAm J Hum Genet896806-8122011
Herzig S,et al.Identification and functional expression of the mitochondrial pyruvate carrierScience337609093-962012
Mayr JA,et al.Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevationAm J Hum Genet896792-7972011