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Mucopolysaccharidosis Type I Overview

Mucopolysaccharidosis Type I
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Category: Metabolic (Associated with the Body's Enzymes and Cell Metabolism)

Gene: IDUA

Variant Detected: c.1107_1109delCGA; c.1108_1110GAC

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Recessive

Test Overview: Neurological signs are usually not seen or mild, however exaggerated myotatic reflexes, impaired pelvic limb proprioception, along with reduced cervical mobility range and apparent pain on cervical palpation have been recently described suggesting possible cervical myelopathy. Slowing of CNS conduction, predominantly in the cervical spinal cord, as determined by somatosensory evoked potentials, is supportive of some form of cervical cord dysfunction in affected cats. Cats excrete excessive amounts of glycosaminoglycans in urine, and glycosaminoglycan storage is evident in fibroblasts and neurons.

Research Citation(s): https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930586/

Associated Breed(s): Domestic Short Hair,  Domestic Medium / Long Hair,