Carnitine-acylcarnitine translocase deficiency (Q91996): Difference between revisions
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Deficiência de carnitina-acilcarnitina translocase é um transtorno de oxidação de ácidos graxos de cadeia longa caracterizado na maioria dos pacientes por comprometimento neurológico neonatal (letargia, má alimentação), distúrbios do ritmo cardíaco e hipoglicemia hipocetótica com hiperamonemia. Hepatomegalia e cardiomiopatia hipertrófica podem se desenvolver secundariamente. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Carnitine-acylcarnitine translocase (CACT) deficiency is a disorder of long chain fatty acid oxidation characterised in most patients by neonatal neurological distress (lethargy, poor feeding), cardiac rhythm disorders and hypoketotic hypoglycaemia with hyperammonemia. Hepatomegaly and hypertrophic cardiomyopathy may develop secondarily. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/677949122 / rank | |||||||||||||||
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CID11:ID_677949122 | |||||||||||||||
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dki-india-ID_677949122 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
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Latest revision as of 07:09, 16 August 2026
Carnitine-acylcarnitine translocase (CACT) deficiency is a disorder of long chain fatty acid oxidation characterised in most patients by neonatal neurological distress (lethargy, poor feeding), cardiac rhythm disorders and hypoketotic hypoglycaemia with hyperammonemia. Hepatomegaly and hypertrophic cardiomyopathy may develop secondarily.
| Language | Label | Description | Also known as |
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| default for all languages | ID_677949122 |
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| English | Carnitine-acylcarnitine translocase deficiency |
Carnitine-acylcarnitine translocase (CACT) deficiency is a disorder of long chain fatty acid oxidation characterised in most patients by neonatal neurological distress (lethargy, poor feeding), cardiac rhythm disorders and hypoketotic hypoglycaemia with hyperammonemia. Hepatomegaly and hypertrophic cardiomyopathy may develop secondarily. |
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CID11:ID_677949122
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dki-india-ID_677949122
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Concluído
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15 August 2026
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