Carnitine palmitoyltransferase II deficiency, severe infantile form (Q104474): Difference between revisions
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A forma infantil grave de deficiência de carnitina palmitoiltransferase II, um transtorno hereditário que afeta a oxidação mitocondrial de ácidos graxos de cadeia longa é a forma de início precoce da doença. A apresentação pode ser no período neonatal, mas a maioria dos casos tem início entre 6 e 24 meses. A doença é caracterizada por intolerância ao jejum grave, levando a distúrbios metabólicos caracterizados por hipoglicemia hipocetótica, resultando em coma, convulsões e encefalopatia hepática. Há miopatia do músculo esquelético associada e cardiomiopatia que pode levar a arritmias cardíacas paroxísticas fatais. | |||
| description / en | description / en | ||
The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease. Presentation can be in the newborn period but most cases have an age of onset between 6 and 24 months. The disease is characterised by a severe fasting intolerance leading to metabolic derangements of hypoketotic hypoglycaemia, resulting in coma and seizures, and hepatic encephalopathy leading to liver failure. There is associated skeletal muscle myopathy and cardiomyopathy which can lead to fatal paroxysmal cardiac arrhythmias. | |||
Revision as of 10:19, 17 August 2026
The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease. Presentation can be in the newborn period but most cases have an age of onset between 6 and 24 months. The disease is characterised by a severe fasting intolerance leading to metabolic derangements of hypoketotic hypoglycaemia, resulting in coma and seizures, and hepatic encephalopathy leading to liver failure. There is associated skeletal muscle myopathy and cardiomyopathy which can lead to fatal paroxysmal cardiac arrhythmias.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1488785910 |
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| English | Carnitine palmitoyltransferase II deficiency, severe infantile form |
The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease. Presentation can be in the newborn period but most cases have an age of onset between 6 and 24 months. The disease is characterised by a severe fasting intolerance leading to metabolic derangements of hypoketotic hypoglycaemia, resulting in coma and seizures, and hepatic encephalopathy leading to liver failure. There is associated skeletal muscle myopathy and cardiomyopathy which can lead to fatal paroxysmal cardiac arrhythmias. |
