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General Information
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| Term |
carnitine palmitoyltransferase I deficiency |
ID (Ontology) |
DOID:0090129 (Human Disease) |
| Definition |
A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. |
| Also Known As |
"carnitine palmitoyl transferase 1A deficiency" ; "carnitine palmitoyl transferase IA deficiency" ; "CPT I deficiency" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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carnitine palmitoyltransferase I deficiency | 1 | for disease ribbon | carnitine palmitoyltransferase I deficiency | 1 | model of | carnitine palmitoyltransferase I deficiency | 1 |
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Relationships