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Summary
PHOSPHORIBOSYL PYROPHOSPHATE SYNTHETASE I DEFECT (CMTX5)
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 ROSENBERG-CHUTORIAN SYNDROME
311070
OMIM = Online Medalian Inheritance of Men
99014
Xq22.3
very rare
X-linked recessive
mutation in the PRPS1 gene
symptoms
areflexia
ataxia
blindness, visual loss, visual impairment
gait disturbance
hearing defect, deafness
hypotonia
infections (severe or recurrent)
mental retardation
motor retardation
muscle atrophy
onset, adolescent
onset, childhood
onset, infancy
optic atrophy
peripheral neuropathy
retinitis pigmentosa
laboratory finding
no specific laboratory findings (P, S, U ,CSF)
Literature
Nessa A,et al.Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemiaJ Pediatr Endocrinol Metab259963-9672012