Mevalonic aciduria (Q97697): Difference between revisions
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A acidúria mevalônica e a síndrome de hiperimunoglobulinemia D representam aos dois extremos de um espectro clínico da doença causada pela deficiência de mevalonato quinase, a primeira enzima comprometida na biossíntese do colesterol. A acidúria mevalônica é caracterizada por retardo psicomotor, deficiência de crescimento, ataxia cerebelar progressiva, características dismórficas, deficiência visual progressiva e crises febris recorrentes com hepatoesplenomegalia, linfadenopatia, sintomas abdominais, artralgia e erupções cutâneas. Na hiperimunoglobulinemia D, apenas os ataques febris estão presentes, mas um subgrupo de pacientes também pode desenvolver anormalidades neurológicas de vários graus, como atraso intelectual, ataxia, sintomas oculares e epilepsia. | |||
| description / en | description / en | ||
Mevalonic aciduria (MVA) and hyperimmunoglobulinaemia 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 characterised 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. | |||
Revision as of 13:49, 16 August 2026
Mevalonic aciduria (MVA) and hyperimmunoglobulinaemia 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 characterised 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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_572875152 |
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| English | Mevalonic aciduria |
Mevalonic aciduria (MVA) and hyperimmunoglobulinaemia 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 characterised 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. |
