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Summary
RETINITIS PIGMENTOSA 59 (CDG)
DHDDS-CDG
613861
OMIM = Online Medalian Inheritance of Men
791
1p36.11
rare
autosomal recessive
One patient presenting with severe multisystem disease associated with DHDDS deficiency [Sabry S et al. 2016]
symptoms
cryptorchism
epilepsy
growth retardation
hearing defect, deafness
hepatomegaly (large liver)
hypotonia
night blindness
onset, neonatal
retinitis pigmentosa
seizures
laboratory finding
IEF of serum transferrin abnormalserum
Literature
Kurokawa Ket al.Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiencyJ Hum Genet524349-3542007
Malhotra RMason PKLamin A/C deficiency as a cause of familial dilated cardiomyopathyCurr Opin Cardiol243203-2082009
Eather Get al.Carbamyl phosphate synthase deficiency: diagnosed during pregnancy in a 41-year-oldJ Clin Neurosci136702-7062006
Hershberger REet al.Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathyClin Transl Sci1121-262008
Slater PMGrivell R, Cyna AMLabour management of a woman with carnitine palmitoyl transferase type 2 deficiencyAnaesth Intensive Care372305-3082009
Greenberg CRet al.The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populationsMol Genet Metab964201-2072009