Pseudo-Hurler polydystrophy
Pseudo-Hurler Polydystrophy
Pseudo-Hurler polydystrophy (pronunciation: soo-doh-hur-ler pol-ee-dis-tro-fee), also known as Mucolipidosis III alpha/beta, is a rare genetic disorder characterized by a deficiency of certain enzymes needed for the normal turnover of various complex molecules in the body.
Etymology
The term "Pseudo-Hurler" is derived from its similarity to Hurler syndrome, another lysosomal storage disorder. "Polydystrophy" refers to the multiple organ systems that are affected by this condition.
Symptoms
Symptoms of Pseudo-Hurler polydystrophy typically begin in early childhood and may include skeletal abnormalities, joint stiffness, and growth retardation. Other symptoms may include heart valve disease, recurrent respiratory infections, and progressive intellectual disability.
Causes
Pseudo-Hurler polydystrophy is caused by mutations in the GNPTAB gene. This gene provides instructions for making an enzyme that is involved in the breakdown and recycling of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the GNPTAB gene disrupt the normal function of this enzyme, leading to the accumulation of GAGs in cells and tissues throughout the body.
Diagnosis
Diagnosis of Pseudo-Hurler polydystrophy is based on clinical examination, genetic testing, and biochemical testing to measure the levels of certain enzymes in the blood and urine.
Treatment
There is currently no cure for Pseudo-Hurler polydystrophy. Treatment is supportive and may include physical therapy, special education, and medications to manage symptoms.
See also
External links
- Medical encyclopedia article on Pseudo-Hurler polydystrophy
- Wikipedia's article - Pseudo-Hurler polydystrophy
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