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Summary
MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY
610773
OMIM = Online Medalian Inheritance of Men
91130
12q23.1
rare
autosomal recessive
mutation in the SLC25A3 gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
early death
exercise intolerance
failure to thrive
hypotonia
lactic acidosis
metabolic acidosis
muscle weakness
respiratory insufficiency
laboratory finding
L-Lactic acid increasedplasma
Lactate/Pyruvate ratio increasedplasma
Literature
Ng BG,et al.Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylationAm J Hum Genet924632-6362013
Kimizu T,et al.A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsyBrain Dev393256-2602017
Kodera H,et al.De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathyHum Mutat34121708-17142013