OBO ID: DOID:0090129 |
Term Name: | carnitine palmitoyltransferase I deficiency | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0090129 ) |
OTHER carnitine palmitoyltransferase I deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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