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Department of Clinical Studies - Philadelphia
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Section of Medical Genetics - PennGen
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Metabolic Screening

The following table outlines the main contents of the metabolic screening program in the Section of Medical Genetics.

ABNORMAL METABOLITES IN URINE OF SMALL ANIMALS WITH TYPICAL INBORN ERRORS OF METABOLISM

Urinary Amino Acids

Name of Disorder

Species or Breed

Increased

Generalized

Fanconi syndrome

Basenji and others

Cystine

Cystinuria

Many breeds

Ornithine

Ornithine aminotransferase deficiency

Domestic short hair cats

Gyrate atrophy

 

Tyrosine

Tyrosine aminotrasferase deficiency

German shepherd

Tyrosinemia type II

 

Citrulline

Argininosuccinate synthetase deficiency

Golden retriever, Beagle

Sarcosine

Hypersarcosinemia

Portuguese water dogs

Alanine, glutamine

Portosystemic shunts

Many breeds of dogs and cats

Liver disease

Many breeds of dogs and cats

Glycine, alanine, protein

 

Sheltie, Collie

Decreased

Taurine

Taurine deficiency (cardiac disease and retinal atrophy)

Cats

Felinine

"Sick" cat, malnutrition

Cats

Urinary Organic Acids

Name of Disorder

Species or Breed

Methylmalonic acid

Selective cobalamin intestinal malabsorption (Vitamin B12 deficiency)

Giant schnauzers, Border collie, Beagle, cats

Methylmalonic aciduria

Shar pei, Basset hound

Lactic acid

Lactic acidosis

Irish setter, other dogs and cats

Mitochondrial myopathy

Old English sheepdogs

Fanconi syndrome

Basenji, Norwegian elkhound

Isovaleric acid

Isovaeric aciduria

Siamese

Oxalate, L-glycerate

Primary hyperoxluria

Cats, Tibetan spaniel

Urinary Carbohydrates

Name of Disorder

Species or Breed

Glucose

Diabetes mellitus

Dogs, cats

Renal glucosuria

Norwegian elkhounds

Fanconi syndrome

Basenji, others

Lactose

Lactosuria

Nursing animals

Liver disease

Dogs, cats

Galactose

Liver disease

Dogs

Urinary Glycosaminoglycans

Name of Disorder

Species or Breed

Dermatan sulfate

MPS I

Domestic cats, Plotthound dogs, Rottweiler

MPS II

Labrador retriever dogs

MPS VI

Siamese cats, Domestic short hair cats

 

Miniature pinscher dogs, Welsh corgi dogs

MPS VII

Mix-breed dogs, German shepherd and Domestic short hair cats

Heparan sulfate

MPS IIIA

Wirehaired dachshund dogs

MPS IIIB

Skiperkee, Emus (avian)

Chondroitin sulfate

Rapid growth, Hypothyroidism, Various dwarfism, Metabolic bone disease

Dogs, cats

Urinary Oligosaccharides

Name of Disorder

Species or Breed

Variety of mannose- containing oligosaccharides

Mannosidosis

Cats

High molecular weight-oligosaccharides

GM1 gangliosidosis

Dogs and cats

GM2 gangliosidosis

Dogs and cats

Fucosidosis

English Springer spaniels

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