RIBOSE-5-PHOSPHATE ISOMERASE DEFICIENCY

Question 1

What is  RIBOSE-5-PHOSPHATE ISOMERASE DEFICIENCY?

Accepted Answer

very rare (4 patients)
autosomal recessive
mutation in the RPIA gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Ribose-5-phosphat-Isomerase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 608611

Question 4

Which enzymes are involved?

Accepted Answer

Ribose 5-phosphate isomerase

Disease	RIBOSE-5-PHOSPHATE ISOMERASE DEFICIENCY
OMIM	608611 OMIM = Online Mendelian Inheritance of Men
Orphanet	440706
Protein (UniProt)	Ribose 5-phosphate isomerase
ExPASy	5.3.1.6
Gene locus	2p11.2
ICD
Summary	very rare (4 patients) autosomal recessive mutation in the RPIA gene
Laboratory findings	D-Arabitol inc (urine) L-Xylulose inc (urine) Ribitol inc (urine) Ribitol inc (body fluids)
Symptoms	ataxia developmental delay encephalopathy epilepsy hypertonia, spasticity leukoencephalopathy mental retardation motor retardation MRS, brain, abnormalities neuropathy nystagmus onset, childhood onset, infancy optic atrophy peripheral neuropathy psychomotor retardation seizures white matter changes, abnormalities