Ribose-5-phosphate isomerase deficiency
Ribose-5-phosphate isomerase deficiency | |
---|---|
Other names | RPI deficiency[1] |
Ribose-5-phosphate isomerase deficiency is a human disorder caused by mutations in ribose-5-phosphate isomerase, an enzyme of the pentose phosphate pathway. With only four diagnosed patients over a 27-year period, RPI deficiency is the second rarest disease known as of now, being beaten only by Fields Condition affecting two known individuals, Catherine and Kirstie Fields.[2][3]
Mechanism
In the search for an explanation for this rarity, it has been found that the patient has a seldom-seen
The molecular cause of the pathology is not fully understood. One hypothesis is that
Diagnosis
Symptoms include
Treatment
There are no current treatment or prognosis for ribose-5-phosphate isomerase deficiency.
History
The first patient was a male born in 1984 to healthy, unrelated parents.[6] Early in life, the patient had psychomotor retardation and developed epilepsy at age 4. From age 7, a slow neurological regression occurred with prominent cerebellar ataxis, some spasticity, optic atrophy, and a mild sensorimotor neuropathy with no observed organomegaly dysfunction of internal organs. MRI scans at age 11 and 14 revealed extensive abnormalities of the cerebral white matter and elevated levels of D-ribitol and D-arabitol.[6]
In 1999 van der Knaap and colleagues[7][4] reviewed this case of the then 14-year-old boy and characterised the associated symptoms of RPI deficiency as the following: developmental delay, insidious psychomotor regression, epilepsy, leukoencephalopathy and abnormal polyol metabolism. Later, Naik and colleagues[8] reported a second case, an 18-year-old man with seizures, psychomotor regression and diffuse white matter abnormality. A third case was reported in 2018 by Sklower Brooks and colleagues, a child with neonatal onset leukoencephalopathy and psychomotor delays.[9] A fourth case was reported in 2019 by Kaur and colleagues[10] with progressive leukoencephalopathy and elevated urine polyols arabitol and ribitol.
References
- ^ "OMIM Entry - # 608611 - RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY". omim.org. Retrieved 16 March 2019.
- ^ S2CID 10870492.
- ^ Dalling, Robert (2017-02-10). "These twins are 'trapped' in their living room as work plans stall". WalesOnline. Retrieved 2021-07-31.
- ^ PMID 14988808.
- ^ "Ribose 5-Phosphate Isomerase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials". www.malacards.org. Retrieved 2018-03-05.
- ^ PMID 14988808.
- S2CID 43743595.
- S2CID 9554949.
- S2CID 51936427.
- S2CID 195760193.