Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency, MCAD deficiency
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is a genetic disorder that affects fatty acid oxidation in the Cavalier King Charles Spaniel breed. This disease impacts the metabolism of certain oils found in Coconut, Palm, and Kernel oils and prevents the use of these fats as an alternative source of energy when glucose is not readily available. Symptoms can include altered nervous system function, low blood sugar, complex seizures, lethargy, and ataxia. In severe cases, the disease can result in coma and even sudden death. Symptoms will appear during times of fasting or increased metabolic activity. Although affected animals are unable to use certain fats as an alternative energy source when their bodies run out of glucose, the disease can be successfully managed by a change to a low-fat diet.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Medium Chain Acyl-CoA Dehydrogenase Deficiency nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Medium Chain Acyl-CoA Dehydrogenase Deficiency but will, if bred, pass the mutation to 50% of their offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with this disease and are likely to develop Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
ACADM
Chromosome
Ch. 6
Mutation
c.444_445delinsGTTAATTCTCAATATTGTCTAAGAATTATG
Publication:
Christen M, Bongers J, Mathis D, Jagannathan V, Quintana RG, Leeb T. ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency. Genes (Basel). 2022 Oct 13;13(10):1847 [PubMed: 36292732]
