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Acyl-CoA Dehydrogenase Deficiency (Cavalier King Charles Spaniel Type) – Fast & Reliable Standalone Test

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Test Overview:

The ACADM Frameshift Variant in Cavalier King Charles Spaniels is associated with Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD), a metabolic disorder affecting the breakdown of medium-chain fatty acids. This genetic mutation leads to a deficiency in the ACADM enzyme, crucial for energy production during fasting or periods of high energy demand. Affected dogs may experience symptoms such as lethargy, low blood sugar (hypoglycemia), muscle weakness, and, in severe cases, life-threatening metabolic crises. While MCADD is a well-documented condition in humans, its impact on Cavaliers is still under investigation, making genetic testing valuable for responsible breeding and early health management.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

ACADM

Variant Detected:

. A homozygous c.444_445delinsGTTAATTCTCAATATTGTCTAAGAATTATG of the ACADM gene resulting in a frameshift and premature stop codon

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Christen et al. Genes (Basel). 2022 Oct; 13(10): 1847.

Associated Breed(s):

Cavador, Cavalier King Charles Spaniel, Cavoodle,

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