Intestinal Cobalamin Malabsorption (Australian Shepherd Type)

General Information: Intestinal cobalamin malabsorption (Australian shepherd type) is an inherited disease in dogs affecting the absorption of vitamin B12 and other essential nutrients from the intestines and kidneys. Symptoms typically manifest after weaning and may include anorexia, lethargy, poor weight gain, and muscle weakness. In severe cases, affected dogs may develop hepatic encephalopathy, leading to neurological issues such as seizures and coma. Diagnosis involves detecting elevated methylmalonic acid levels in urine, indicating cobalamin deficiency. Treatment requires lifelong cobalamin supplementation to manage symptoms, although affected dogs may still excrete excessive proteins in urine despite treatment.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the AMN gene identifies whether a dog is a carrier of intestinal cobalamin malabsorption (Australian shepherd type). This condition is inherited in an Autosomal Recessive manner, meaning affected dogs must inherit two copies of the mutated gene to develop the disease. Carrier dogs do not exhibit symptoms, but breeding two carriers increases the risk of producing affected pups. Offspring from carrier pairings have a 25% chance of inheriting the disease and a 50% chance of being carriers. Reliable genetic testing is crucial for responsible breeding practices to prevent the transmission of this mutation.