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Intestinal lipid malabsorption is an inherited metabolic disorder identified in Australian Kelpies, caused by an autosomal recessive mutation in the Acyl-CoA Synthetase Long Chain family member 5 (ACSL5) gene.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 28 |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | ILM |
Informations générales
Intestinal lipid malabsorption is an inherited metabolic disorder identified in Australian Kelpies, caused by an autosomal recessive mutation in the Acyl-CoA Synthetase Long Chain family member 5 (ACSL5) gene. This gene plays a role in fatty acid metabolism. The condition impairs the intestine’s ability to absorb long-chain fatty acids, resulting in inefficient utilization of dietary fat despite normal or increased food intake.
Caractéristiques cliniques
Affected puppies are typically normal at birth, with clinical signs developing within the first weeks to months of life. They often show poor growth and fail to thrive, remaining smaller than their littermates. Common signs include increased appetite (polyphagia), loose stools, and pale, fatty feces (steatorrhea). Additional features may include increased stool volume, abdominal distension, and a dull or wiry coat. Clinical signs often improve with age, particularly after a few months; however, affected dogs usually remain smaller than normal and may continue to have reduced tolerance to high-fat diets.
Additional Information
Références
Pubmed ID: 33106515
Year published: 2020
Omia ID: 2226
Omia variant ID: 1259