Lesch-Nyhan Syndrome also known as Nyhan’s syndrome, is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). LNS is an X-linked recessive disease: the gene is carried by the mother and passed on to her son.
LNS is present at birth in baby boys. Patients have severe mental and physical problems throughout life. The lack of HGPRT causes a build-up of uric acid in all body fluids, and leads to problems such as severe gout, poor muscle control, and moderate mental retardation, which appear in the first year of life.
A striking feature of LNS is self-mutilating behaviors, characterized by lip and finger biting, that begin in the second year of life.
Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems.
Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington's disease. The direct cause of the neurological abnormalities remains unknown. Because a lack of HGPRT causes the body to poorly utilize vitamin B12, some boys may develop a disorder called megaloblastic anemia.
The symptoms caused by the buildup of uric acid (arthritis and renal symptoms) respond well to treatment with drugs such as allopurinol that reduce the levels of uric acid in the blood. The mental deficits and self-mutilating behavior do not respond to treatment. There is no cure, but many patients live to adulthood. LNS is rare, affecting about one in 380,000 live births.
Isa ito sa mga kaso ng ganitong klase ng sakit, napakakonti ng ganitong kaso ngunit sa Pilipinas pa mkikita ang dalawang bata na may ganitong klase ng sakit at sinong hindi maaawa sa kalagayan ng mga ito ng malaman kong mgkapatid pa sila.Sinasabing 1 sa bawat 380,000 ang apektado nito. Kakaiba ang sakit na ito sapagkat sarili nilang katawan ang kanilang kinakain.Halos ubos na ang kanilang mga labi at daliri..
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3 comments:
Nakakalungkot lang na isipin na ang mga ganitong pagsubok sa buhay ay walang banta kung dumating upang sa gayon ay ating maiwasan. Ngunit sa mga ganitong pagkakataon, tibay ng loob at haba ng pasensya ang kailangan upang tuluyang malabanan ang kalungkutang dulot nito sa buhay ng natin. Gayonpaman, ang lahat ng ito ay pawang Diyos na may kapal lamang ang nakakaalam. Ang pagsubok na ito ay atin ding malalampasan....
tama ka dyan! Diyos lang ang nkakaalam kya let's just pray for them..
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