Carnitine palmitoyltransferase II deficiency, myopathic form (Q104470): Difference between revisions
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A forma miopática da deficiência de carnitina palmitoiltransferase II é um transtorno metabólico hereditário que afeta a oxidação mitocondrial de ácidos graxos de cadeia longa. É a forma mais comum e menos grave de deficiência de CPT II. As manifestações clínicas são caracterizadas por episódios recorrentes de rabdomiólise, dor muscular e fraqueza desencadeada geralmente por exercícios físicos prolongados e às vezes exacerbada por extremos de temperatura. Estes episódios também podem ser provocados ou exacerbados por jejum prolongado, assim como podem ocorrer durante doenças virais. | |||
| description / en | description / en | ||
The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency. The clinical manifestations are characterised by recurrent attacks of rhabdomyolysis, muscle pain, and weakness triggered usually by prolonged physical exercise and sometimes exacerbated by extremes in temperature; episodes may also be provoked or exacerbated by prolonged fasting, such as may occur with intercurrent viral illness. | |||
Revision as of 10:19, 17 August 2026
The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency. The clinical manifestations are characterised by recurrent attacks of rhabdomyolysis, muscle pain, and weakness triggered usually by prolonged physical exercise and sometimes exacerbated by extremes in temperature; episodes may also be provoked or exacerbated by prolonged fasting, such as may occur with intercurrent viral illness.
| Language | Label | Description | Also known as |
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| default for all languages | ID_93488909 |
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| English | Carnitine palmitoyltransferase II deficiency, myopathic form |
The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency. The clinical manifestations are characterised by recurrent attacks of rhabdomyolysis, muscle pain, and weakness triggered usually by prolonged physical exercise and sometimes exacerbated by extremes in temperature; episodes may also be provoked or exacerbated by prolonged fasting, such as may occur with intercurrent viral illness. |
