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Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses.
Abstract: Deficiencies of enzymes involved in erythrocyte metabolism can have significant effects on erythrocyte function and survival. Animals with pyruvate kinase (PK) or phosphofructokinase (PFK) deficiencies have shortened erythrocyte life spans and regenerative anemia. PK-deficient dogs (but not PK-deficient cats) develop progressive myelofibrosis and osteosclerosis of bone marrow and hemochromatosis and cirrhosis of the liver. PFK-deficient dogs have sporadic episodes of hyperventilation-induced intravascular hemolysis and hemoglobinuria. Cytochrome b5 reductase (Cb5R) deficiency in dogs and cats results in persistent methemoglobinemia and cyanotic mucous membranes. Severe deficiency of glucose-6-phosphate dehydrogenase, the rate-controlling enzyme in the pentose phosphate pathway, resulted in anemia with eccentrocytosis in an American saddlebred colt. Horses with erythrocyte flavin adenine dinucleotide (FAD) deficiency have both eccentrocytosis (attributable to severe deficiency in glutathione reductase activity) and methemoglobinemia (attributable to Cb5R deficiency); the dual enzyme deficiency occurs because FAD is a required cofactor for both enzymes. Erythrocyte enzyme deficiencies do not usually shorten life expectancy, except for PK-deficient dogs and potentially PFK-deficient dogs during a hemolytic crisis. Although enzyme deficiencies are rare causes of anemia and methemoglobinemia, the ability to diagnose deficient animals allows for the possibility of eliminating these undesirable traits in future breeding. DNA-based assays are available for PK and PFK deficiencies; whereas, biochemical tests of enzyme activity are required for other deficiencies. Continued research is needed to document additional enzyme deficiencies that likely occur and to develop additional DNA-based assays to detect heterozygous animals.
Publication Date: 2006-06-20 PubMed ID: 16783707DOI: 10.1111/j.1939-165x.2006.tb00108.xGoogle Scholar: Lookup The Equine Research Bank provides access to a large database of publicly available scientific literature. Inclusion in the Research Bank does not imply endorsement of study methods or findings by Mad Barn.
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Summary
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This research investigates how deficiencies in enzymes that affect red blood cell metabolism can cause health issues in dogs, cats, and horses, including shortened red blood cell lifespan and regenerative anemia. The research further studies specific effects of these deficiencies on various animals, and the value of diagnosing these conditions in terms of preventing the diseases in future generations.
Understanding Enzyme Deficiencies and their Impact
- The researchers discuss the impact of enzyme deficiencies in animals, focusing on pyruvate kinase (PK) or phosphofructokinase (PFK) deficiencies that can cause shortened red blood cell lifespans and regenerative anemia. In particular, PK-deficient dogs develop conditions like myelofibrosis, osteosclerosis of bone marrow, and liver diseases like hemochromatosis and cirrhosis.
- PFK-deficient dogs, on the other hand, tend to have sporadic episodes of hyperventilation, which prompts intravascular hemolysis (destruction of red blood cells) and hemoglobinuria (the presence of hemoglobin in urine).
- Dogs and cats with Cytochrome b5 reductase (Cb5R) deficiency exhibit persistent methemoglobinemia (a blood disorder) and cyanotic mucous membranes.
Anemia due to Enzyme Deficiencies
- The researchers examine glucose-6-phosphate dehydrogenase (the primary enzyme in the pentose phosphate path), whose severe deficiency in an American saddlebred colt resulted in anemia and eccentrocytosis, a condition involving misshapen red blood cells.
- The research also highlights that horses with a deficiency in erythrocyte flavin adenine dinucleotide (FAD) tend to have eccentrocytosis as well as methemoglobinemia due to a dual enzyme deficiency. This is because FAD is a required cofactor for two enzymes: glutathione reductase and Cb5R.
Implications of Enzyme Deficiencies
- Notably, enzyme deficiencies do not typically shorten the life expectancy of the affected animal, with the exception of PK-deficient dogs and potentially PFK-deficient dogs undergoing a hemolytic crisis.
- Despite enzyme deficiencies being rare causes of anemia and methemoglobinemia, diagnosing these deficiencies can lead to the potential elimination of these troublesome traits in future animal breeding.
- Diagnostic tests range from DNA-based assays for PK and PFK deficiencies to biochemical tests of enzyme activity for other deficiencies.
- The research ends by highlighting the need for more study to identify other enzyme deficiencies and to develop additional DNA-based assays for detecting heterozygous animals—those carrying one copy of a defective gene.
Cite This Article
APA
Harvey JW.
(2006).
Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses.
Vet Clin Pathol, 35(2), 144-156.
https://doi.org/10.1111/j.1939-165x.2006.tb00108.x Publication
Researcher Affiliations
- Department of Physiological Sciences, College of Veterinary Medicine, University of Florida, Gainesville, FL, USA. harveyj@mail.vetmed.ufl.edu
MeSH Terms
- Animals
- Cat Diseases / diagnosis
- Cat Diseases / enzymology
- Cat Diseases / physiopathology
- Cats
- Dog Diseases / diagnosis
- Dog Diseases / enzymology
- Dog Diseases / physiopathology
- Dogs
- Erythrocytes / enzymology
- Horse Diseases / diagnosis
- Horse Diseases / enzymology
- Horse Diseases / physiopathology
- Horses
References
This article includes 95 references
Citations
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