What are the symptoms of RPI deficiency?

Symptoms include optic atrophy, nystagmus, cerebellar ataxia, seizures, spasticity, psychomotor retardation, leukoencephalopathy and global developmental delay.

How is RPI deficiency diagnosed?

Transaldolase (TALDO) deficiency and ribose-5-phosphate (RPI) deficiency are 2 recently described multisystem disorders of the pentose phosphate pathway. Polyols analysis in urine is the method of choice for detecting TALDO deficiency and RPI deficiency.

What is RPI deficiency for kids?

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. White-matter disorders of unknown etiology constitute a vexing problem in child neurology.

What is ribose 5-phosphate isomerase deficiency?

Disease definition. Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids.

Is RPI deficiency fatal?

In the case of this disorder, RPI functions partially in tissues, because if the gene was simply non-functional, it would likely be lethal. This means that a specific type of mutation needs to occur for this disorder to occur, leading to it being the rarest disease in the world, with only three confirmed cases.

Is RPI deficiency recessive or dominant?

UniProtKB/Swiss-Prot : 71 Ribose 5-phosphate isomerase deficiency: An autosomal recessive inborn error of polyols metabolism characterized by highly elevated level of ribitol and arabitol in brain and body fluids.

What diseases are called Enzymopathies?

Hereditary red blood cell enzymopathies are genetic disorders affecting genes encoding red blood cell enzymes. They cause a specific type of anemia designated hereditary nonspherocytic hemolytic anemia (HNSHA).

What is ribose 5-phosphate used for?

It has two important products: ribose 5-phosphate, which is needed for synthesis of nucleotides and nucleic acids (DNA and RNA), and NADPH (the reduced form of nicotinamide adenine dinucleotide phosphate), which provides the reducing equivalents for synthetic reactions such as fatty acid biosynthesis.

What is ribose-5-phosphate used for?

What does ribose-5-phosphate isomerase do?

Ribose 5-phosphate isomerase (Rpi) is a highly conserved protein that acts as an enzyme in both eukaryotic and prokaryotic metabolic pathways. Specifically, Rpi catalyzes the reaction that converts ribose-5-phosphate (R5P) to ribulose-5-phosphate (Ru5P).