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Beta-mannosidosis in twelve Salers calves
B Abbitt1, M Z Jones, T R Kasari
1Texas Veterinary Medical Diagnostic Laboratory, College Station 77841.
Journal of the American Veterinary Medical Association
|January 1, 1991
Summary
Beta-mannosidosis, a rare lysosomal storage disease, was diagnosed in Salers calves due to beta-mannosidase deficiency. This genetic disorder, likely autosomal recessive, causes neurological and physical abnormalities in affected neonates.
Area of Science:
- Veterinary Medicine
- Biochemistry
- Genetics
Background:
- Beta-mannosidosis is a lysosomal storage disease resulting from beta-mannosidase enzyme deficiency.
- Lysosomal storage diseases are a group of inherited metabolic disorders characterized by the accumulation of undigested materials within lysosomes.
Purpose of the Study:
- To diagnose and characterize beta-mannosidosis in a cohort of purebred Salers calves.
- To investigate the clinical, pathological, and biochemical features of this specific genetic disorder in cattle.
Main Methods:
- Clinical examination of affected neonatal calves.
- Postmortem examination including gross pathology and histopathology.
- Ultrastructural analysis of cellular lesions.
- Biochemical assays of serum beta-mannosidase activity.
- Analysis of oligosaccharide accumulation in tissues.
- Pedigree analysis to determine mode of inheritance.
Main Results:
- Twelve Salers calves were diagnosed with beta-mannosidosis, exhibiting neurological signs (inability to rise, tremors) and physical abnormalities.
- Pathological findings included cerebral white matter abnormalities, ventricular dilatation, and renomegaly.
- Intracytoplasmic vacuoles, identified as distended lysosomes, were prominent in neurons and other cell types.
- Affected calves showed profound deficiency in serum beta-mannosidase activity.
- Tissue accumulation of specific beta-linked oligosaccharides was observed.
- Inheritance pattern suggested an autosomal recessive mode.
Conclusions:
- Beta-mannosidosis was confirmed in Salers calves, presenting with a distinct clinical and pathological phenotype.
- The study identified key biochemical markers and pathological hallmarks of the disease in cattle.
- Evidence supports an autosomal recessive inheritance pattern, consistent with other lysosomal storage diseases (glycoproteinoses).