Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0023890 (
cirrhosis
)
42,195
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The present article describes the first patient with a deficiency of
ribose-5-phosphate isomerase
(
RPI
) (Enzyme Commission number 5.3.1.6) who presented with leukoencephalopathy and peripheral neuropathy. Proton magnetic resonance spectroscopy of the brain revealed highly elevated levels of the polyols ribitol and D-arabitol, which were subsequently also found in high concentrations in body fluids. Deficient activity of
RPI
, one of the pentose-phosphate-pathway (PPP) enzymes, was demonstrated in fibroblasts.
RPI
gene-sequence analysis revealed a frameshift and a missense mutation. Recently, we described a patient with
liver cirrhosis
and abnormal polyol levels in body fluids, related to a deficiency of transaldolase, another enzyme in the PPP.
RPI
is the second known inborn error in the reversible phase of the PPP, confirming that defects in pentose and polyol metabolism constitute a new area of inborn metabolic disorders.
...
PMID:Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. 1498 8
