- RPI Deficiency (Ribose-5-phosphate isomerase deficiency)
Ribose-5-phosphate isomerase deficiency is a human disorder caused by mutations in the pentose phosphate pathway enzyme ribose-5-phosphate isomerase.
According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficiency, is the rarest disease in the world with MRI and DNA analysis providing only three case in history. The molecular cause of the genetic pathway malfunction is still to this day not understood. In the search for an explanation for this rarity, it has been found that the patient has a seldom-seen allelic combination. The molecular cause of the pathology is not fully understood. One hypothesis is that ribose-5-phosphate may lack RNA synthesis; another possibility is that the accumulation of D-ribitol and D-arabitol may be toxic.
This disease falls under the category of Inherited Metabolic Disease, nervous system disease.
- optic atrophy
- cerebellar ataxia
- psychomotor retardation
- global developmental delay
Cure and how to take care of the person:
There is NO current treatment as well as prognosis for ribose-5-phosphate isomerase deficiency.
Only three patients are found till date. The first and known case to date of ribose-5-phosphate isomerase (RPI) deficiency was reported.