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fosforibosylpyrofosfaat-synthetase-superactiviteit (aandoening)
fosforibosylpyrofosfaat-synthetase-superactiviteit
PRPP-synthetase-superactiviteit
Phosphoribosylpyrophosphate synthetase superactivity
Phosphoribosyl pyrophosphate synthetase superactivity
An X-linked disorder of purine metabolism comprised of two forms: an early-onset severe form with characteristics of gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).The disease is due to overactivity of ribose-phosphate pyrophosphokinase 1 (PRS-I), an enzyme involved in the synthesis of PRPP, a cofactor involved in the synthesis of purine and pyrimidine nucleotides. PRS-I overactivity results in the overproduction of purine nucleotides and uric acid. In the severe form, PRS-I overactivity is due to gain-of-function point mutations in the open reading frame of the PRSP1 gene (Xq22.3) encoding PRS-I, that lead to defective allosteric control of PRS-I isoform activity.
Id723454008
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE79.8
TermOverige gespecificeerde stoornissen van purine- en pyrimidinemetabolisme
SNOMED CT to Orphanet simple map3222
SNOMED CT to ICD-10 extended map
TargetE79.8
RuleTRUE
AdviceALWAYS E79.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified