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Summary

Disease	RETINITIS PIGMENTOSA 59 (CDG)
Synonym	DHDDS-CDG
OMIM	613861 OMIM = Online Medalian Inheritance of Men
Orphanet	791
Gene locus	1p36.11
Summary	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

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
IEF of serum transferrin					abnormal	serum

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
Kurokawa K	et al.	Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency	J Hum Genet		52	4	349-354	2007
Malhotra R	Mason PK	Lamin A/C deficiency as a cause of familial dilated cardiomyopathy	Curr Opin Cardiol		24	3	203-208	2009
Eather G	et al.	Carbamyl phosphate synthase deficiency: diagnosed during pregnancy in a 41-year-old	J Clin Neurosci		13	6	702-706	2006
Hershberger RE	et al.	Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy	Clin Transl Sci		1	1	21-26	2008
Slater PM	Grivell R, Cyna AM	Labour management of a woman with carnitine palmitoyl transferase type 2 deficiency	Anaesth Intensive Care		37	2	305-308	2009
Greenberg CR	et al.	The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations	Mol Genet Metab		96	4	201-207	2009