Abnormal phosphoribosylpyrophosphate synthetase level

MedGen UID:: 1705289
•Concept ID:: C5139358
•: Finding

HPO:	HP:0032459

Definition

Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal phosphoribosylpyrophosphate synthetase level

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Abnormal enzyme concentration or activity
    - Abnormal circulating enzyme concentration or activity
      - Abnormal phosphoribosylpyrophosphate synthetase level
        Decreased phosphoribosylpyrophosphate synthetase level
        Increased phosphoribosylpyrophosphate synthetase level

Recent clinical studies

Etiology

Overexpression of C1-tetrahydrofolate synthase in fetal Down syndrome brain.

Fountoulakis M, Gulesserian T, Lubec G
J Neural Transm Suppl 2003;(67):85-93. doi: 10.1007/978-3-7091-6721-2_7. PMID: 15068241

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Diagnosis

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.

Al-Maawali A, Dupuis L, Blaser S, Heon E, Tarnopolsky M, Al-Murshedi F, Marshall CR, Paton T, Scherer SW; FORGE Canada Consortium, Roelofsen J, van Kuilenburg AB, Mendoza-Londono R
Eur J Hum Genet 2015 Mar;23(3):310-6. Epub 2014 Jun 25 doi: 10.1038/ejhg.2014.112. PMID: 24961627 Free PMC Article

An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities.

Simmonds HA, Webster DR, Wilson J, Lingham S
Lancet 1982 Jul 10;2(8289):68-70. doi: 10.1016/s0140-6736(82)91690-7. PMID: 6123809

Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.

Zoref E, De Vries A, Sperling O
J Clin Invest 1975 Nov;56(5):1093-9. doi: 10.1172/JCI108183. PMID: 171280 Free PMC Article

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