Metabolic Screening

Metabolic Screening Submission Form
Main Contents of Metabolic Screening Program (table)
Instructions on Sample Submission

Description:
Inherited metabolic diseases, which include all biochemical disorders due to genetically determined defects, have gained notable interest during these years. In the field of veterinary medicine more than 400 inherited disorders in small animals have been described, and several new defects are recognized each year. Breeders have reported that approximately 15-20% of pure breed dogs and cats die before weaning which is much higher than similar mortality rates for mixed-breed animals. It is believed that genetic defects may be a main reason for this difference.

The mission of the Metabolic Screening Laboratory in the Section of Medical Genetics of the Veterinary Hospital of the University of Pennsylvania is to diagnose, prevent, and where possible, treat these diseases. Genetic metabolic screening performs analyses of amino acids, organic acids, and carbohydrates (including glycosaminoglycans and oligosaccharides) for various inborn errors of metabolism. In the case of metabolic storage diseases, storage of inappropriate substances occur in the bodies of affected animals that have enzyme deficiencies in certain metabolic pathways. The most useful specimens to examine are urine samples, because the kidneys cannot reabsorb the abnormal metabolites. Plasma or serum is less useful for metabolic screening but may be required for further study. Our table outlines the main contents of the metabolic screening program in the Section of Medical Genetics. Several disorders which are not listed in the table, such as Glycogen storage disease II and VI, Mucolipidosis II, Krabbe disease, Gaucher disease and Niemann-Pick disease cannot be identified through the typical urine metabolic screening program, but can be identified through special metabolic screening methods.

Clinical Signs:
The typical clinical signs of inborn errors of metabolism include neonatal death, failure to thrive, growth retardation, corneal clouding, chronic vomiting or diarrhea, anorexia, neurological signs, hepatosplenomegaly, skeletal abnormalities and facial dysmorphia. Any animal showing these signs are candidates for the sending of urine and serum/plasma (optional) samples to our laboratory for metabolic screening. You will find the instructions for submitting samples below. The decision of which patient should have metabolic screening is based on the clinical information you are providing and our capability of testing. We are offering the service free of charge for animals with suspected new genetic diseases provided a complete submission form is included with the sample. The various urine spot tests are $20.

Affected Breeds:
Any Breed

Required Samples:
Urine, 5-10 mL
Serum or Plasma, 2-5 mL (optional)

Price: Free, if properly submitted