Preferred Label : Mevalonic aciduria;
ICD-11 definition : Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the
two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase
(MVK), the first committed enzyme of cholesterol biosynthesis. MVA is characterized
by psychomotor retardation, failure to thrive, progressive cerebellar ataxia, dysmorphic
features, progressive visual impairment and recurrent febrile crises with hepatosplenomegaly,
lymphadenopathy, abdominal symptoms, arthralgia and skin rashes. In HIDS, only febrile
attacks are present, but a subgroup of patients may also develop neurological abnormalities
of varying degree such as intellectual deficit, ataxia, ocular symptoms and epilepsy.;
CISMeF acronym : MVA;
Origin ID : 572875152;
UMLS CUI : C1959626;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the
two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase
(MVK), the first committed enzyme of cholesterol biosynthesis. MVA is characterized
by psychomotor retardation, failure to thrive, progressive cerebellar ataxia, dysmorphic
features, progressive visual impairment and recurrent febrile crises with hepatosplenomegaly,
lymphadenopathy, abdominal symptoms, arthralgia and skin rashes. In HIDS, only febrile
attacks are present, but a subgroup of patients may also develop neurological abnormalities
of varying degree such as intellectual deficit, ataxia, ocular symptoms and epilepsy.
