GTR Home > Conditions/Phenotypes > Mevalonic aciduria

Summary

Mevalonic aciduria, the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of a deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36). Mevalonic acid accumulates because of failure of conversion to 5-phosphomevalonic acid, which is catalyzed by mevalonate kinase. Mevalonic acid is synthesized from 3-hydroxy-3-methylglutaryl-CoA, a reaction catalyzed by HMG-CoA reductase (142910). Mevalonic aciduria is characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in hyperimmunoglobulinemia D and to periodic fever syndrome (HIDS; 260920), which is also caused by mutation in the MVK gene (summary by Prietsch et al, 2003). [from OMIM]

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Associated genes

Clinical features

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  • Splenomegaly
  • Thrombocytopenia
  • Morbilliform rash
  • Short stature
  • Large fontanelles
  • Lymphadenopathy
  • Leukocytosis
  • Normocytic hypoplastic anemia
  • Fluctuating hepatomegaly
  • Fluctuating splenomegaly
  • Triangular face
  • Microcephaly
  • Posteriorly rotated ears
  • Blue sclerae
  • Dolichocephaly
  • Cognitive impairment
  • Low-set, posteriorly rotated ears
  • Progressive cerebellar ataxia
  • Incoordination
  • Downslanted palpebral fissures
  • Seizure
  • Cataract
  • Arthralgia
  • Diarrhea
  • Nystagmus
  • Failure to thrive
  • Vomiting
  • Low-set ears
  • Edema
  • Skin rash
  • Muscular hypotonia
  • Global developmental delay
  • Cerebellar atrophy
  • Cerebral atrophy
  • Cerebral cortical atrophy
  • Agenesis of cerebellar vermis
  • Delayed skeletal maturation
  • Kyphoscoliosis
  • Elevated hepatic transaminases
  • Elevated serum creatine phosphokinase
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