PHOSPHORIBOSYL PYROPHOSPHATE SYNTHETASE I DEFECT (CMTX5)

Question 1

What is  PHOSPHORIBOSYL PYROPHOSPHATE SYNTHETASE I DEFECT (CMTX5)?

Accepted Answer

very rare

X-linked recessive

mutation in the PRPS1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

X-chromosomale Charcot-Marie-Tooth-Krankheit Typ 5

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 311070

Question 4

Which enzymes are involved?

Accepted Answer

Ribose-phosphate pyrophosphokinase 1

Disease	PHOSPHORIBOSYL PYROPHOSPHATE SYNTHETASE I DEFECT (CMTX5)
Synonym	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; ROSENBERG-CHUTORIAN SYNDROME
OMIM	311070 OMIM = Online Mendelian Inheritance of Men
Orphanet	99014
Protein (UniProt)	Ribose-phosphate pyrophosphokinase 1
ExPASy	2.7.6.1
Gene locus	Xq22.3
ICD	G60.0
Summary	very rare X-linked recessive mutation in the PRPS1 gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	hearing defect, deafness hypotonia spastic diplegia/quadriplegia/tetraplegia ataxia blindness, visual loss, visual impairment infections (severe or recurrent) intellectual disability/intellectual developmental disorder motor retardation optic atrophy peripheral neuropathy areflexia gait disturbance mental retardation muscle atrophy onset, adolescent onset, childhood onset, infancy retinitis pigmentosa