Disorder - Mucopolysaccharidosis VI

Organ Systems Involved
Systemic

Alternative disorders described within LIDA

Mucopolysaccharidosis I

Alternative Names
Lysosomal storage diseases

Presenting Signs

Mucopolysaccharidosis VI results when one essential enzyme for normal cell metabolism is deficient. Affected cats have poor body conditions and stunted growth due to diseases of the cardiovascular systems and other main organs like the liver and spleen. By six to eight weeks of age, affected cats can have increased cloudiness of the cornea of the eyes, facial distortion such as a broad face, shortened dwarfism, and small and curled ears. Other common symptoms include stiff and painful joints, and less flexibility and range of motions of the spine and the limbs. Large areas of hair loss due to secondary disease can also be noted.

Progressive weakness in the hind limbs will lead to difficulty in walking and even paralysis. Neurological signs like an abnormal gait, problems with posture and a painful spine may occur. Affected cats may have severe skeletal deformities such as the hind limbs being longer than the forelimbs, an enlarged thorax with sunken breastbone, hip dislocation on both sides, short, curved tails and abnormal gaits. The long bones have thinner cortices and this can lead to fractures. Sudden death is common as a result of cardiac or respiratory complications.

Cats at Risk

Purebred cats

Treatment

Medical

PubMed References
Mucopolysaccharidosis VI

Contributor
Doris Cho