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Deficiency of ribose-5-phosphate isomerase(RPIAD)

MedGen UID:
220946
Concept ID:
C1291609
Disease or Syndrome
Synonyms: Ribose 5-Phosphate Isomerase Deficiency; Ribose-5-P isomerase deficiency
SNOMED CT: Deficiency of phosphoriboisomerase (124667004); Deficiency of phosphopentosisomerase (124667004); Deficiency of ribose-5-phosphate isomerase (124667004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): RPIA (2p11.2)
 
Monarch Initiative: MONDO:0012073
OMIM®: 608611
Orphanet: ORPHA440706

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. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy. [from ORDO]

Clinical features

From HPO
Decreased level of erythritol in urine
MedGen UID:
1632680
Concept ID:
C4703621
Finding
A decrease in the level of erythritol in the urine.
Increased level of D-threitol in urine
MedGen UID:
1646905
Concept ID:
C4703625
Finding
An increase in the level of D-threitol in the urine.
Increased level of ribitol in urine
MedGen UID:
1635343
Concept ID:
C4703636
Finding
An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose.
Increased level of ribose in urine
MedGen UID:
1638493
Concept ID:
C4703638
Finding
An increase in the level of ribose in the urine.
Increased level of xylitol in urine
MedGen UID:
1632042
Concept ID:
C4703640
Finding
An increase in the level of xylitol in the urine.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Polyneuropathy
MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
A generalized disorder of peripheral nerves.
Leukoencephalopathy
MedGen UID:
78722
Concept ID:
C0270612
Disease or Syndrome
This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
Incoordination
MedGen UID:
141714
Concept ID:
C0520966
Finding
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Sensorimotor neuropathy
MedGen UID:
207266
Concept ID:
C1112256
Disease or Syndrome
Decreased CSF erythritol concentration
MedGen UID:
1641831
Concept ID:
C4703622
Finding
Concentration of erythritol in the cerebrospinal fluid below the lower limit of normal.
Elevated brain polyol compounds by MRS
MedGen UID:
1841987
Concept ID:
C5826744
Finding
An increase in the level of polyol compounds in the brain identified by magnetic resonance spectroscopy (MRS).
Elevated circulating ribitol concentration
MedGen UID:
1615961
Concept ID:
C4531026
Finding
An increase above the normal concentration of ribitol in the blood.
Increased level of D-threitol in plasma
MedGen UID:
1645586
Concept ID:
C4703623
Finding
An increase in the level of D-threitol in the plasma.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeficiency of ribose-5-phosphate isomerase

Recent clinical studies

Diagnosis

Brooks SS, Anderson S, Bhise V, Botti C
J Child Neurol 2018 Oct;33(12):784-787. Epub 2018 Aug 8 doi: 10.1177/0883073818789316. PMID: 30088433

Prognosis

Brooks SS, Anderson S, Bhise V, Botti C
J Child Neurol 2018 Oct;33(12):784-787. Epub 2018 Aug 8 doi: 10.1177/0883073818789316. PMID: 30088433

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