Visit Metagene.de!
Summary
PEROXISOME BIOGENESIS DISORDER 3A (PBD3A)
614859
OMIM = Online Medalian Inheritance of Men
912
17q12
rare
autosomal recessive
mutation in the PEX12 gene
symptoms
areflexia
high forehead
hypotonia
low set ears
onset, childhood
onset, infancy
onset, neonatal
polycystic kidneys
seizures
laboratory finding
Very-long-chain fatty acids increasedserum
Pipecolic acid increasedurine
Pipecolic acid increasedserum
Literature
Wilmer MJ,et al.Cystinosis: practical tools for diagnosis and treatmentPediatr Nephrol262205-2132011
Kleta R,Gahl WAPharmacological treatment of nephropathic cystinosis with cysteamineExpert Opin Pharmacother5112255-22622004
Nesterova G,Gahl WACystinosis: the evolution of a treatable diseasePediatr Nephrol28151-592013