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Summary
RENAL TUBULAR ACIDOSIS, DISTAL, RTA TYPE I AUTOSOMAL RECESSIVE
RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PRESERVED HEARING
602722
OMIM = Online Medalian Inheritance of Men
402041
7q34
rare
autosomal recessive
mutation in the ATP6N1B gene
symptoms
growth retardation
hearing defect, deafness
hypokalemia
metabolic acidosis
laboratory finding
Potassium decreasedserum
Chloride increasedserum
pH increasedurine
Bicarbonate decreasedserum
Literature
Madu AE1,Oliver LNon-ketotic hyperglycinaemia: case report and review of medical literatureJ Matern Fetal Neonatal Med265537-5392013
Beck-Woedl S,et al.PCSK1-Mutationen als Ursache des Blue-Diaper-SyndromsAPS 2017002017
Choquet H,Stijnen P, Creemers JWGenetic and functional characterization of PCSK1Methods Mol Biol7680247-2532011