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Methylmalonic Aciduria and Cobalamin Malabsorption

Metabolic Screening Submission Form

Description:
Cobalamin or vitamin B12 is involved in various enzyme reactions. Its deficiency results in the accumulation of methylmalonic acid and impaired cellular proliferation and maturation. Thus anemia, leukopenia and thrombocytopenia may develop. Clinically affected animals show failure to thrive and may exhibit inappetence, vomiting, lethargy, abnormal behavior and even seizures.

A diagnosis can be reached by measuring serum cobalamin levels at Texas A&M and urinary methyl malonic acid through the Metabolic Genetic Disease Testing Laboratory of the School of Veterinary Medicine at the University of Pennsylvania. Tests need to be done prior to vitamin B12 supplementations, but a response to parenteral vitamin B12 injections may also support the diagnosis. Cobalamin malabsorption is caused by an ileal receptor defect and has been documented in Giant Schnauzers, Beagles, Border collies and Australian Shepherds. It has also been seen in domestic shorthaired cats.

Affected Breeds:
Giant Schnauzerr
Beagle
Shar Pei
Border Collie
Other Breeds

Required Samples:
Urine in a plastic vial, 5 mL

Price: $20 each

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