plot no. 3A, 1, Jeevan Saral Appartments, Chitlapakkam 2nd main road, Tambaram SanitoriumTambaram,
40 Years experience
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Doctors for Homocystinuria in Anakaputhur, Kanchipuram
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Homocystinuria is also referred to as classical homocystinuria, CBS or cystathionine beta synthase deficiency, which is a metabolic deficiency that causes problems of the CNS or central nervous system. Common signs of the same include very long limbs, very thin built, highly arched feet, seizures, mental disabilities and intellectual problems that exist life long.
HOW IS HOMOCYSTINURIA DIAGNOSED?
The health care practitioner may notice that the child is tall and thin. The other signs that are observed are curved spine, deformity of the chest and dislocated lens of the eye. Tests that may be ordered include any of the following:
• Amino acid screen of blood and urine
• Genetic testing
• Liver biopsy and enzyme assay
• Skeletal x-ray
• Skin biopsy with a fibroblast culture
• Standard ophthalmic exam
HOW IS HOMOCYSTINURIA TREATED?
Treatment for this issue includes having a low protein diet that is accompanied with high doses of Betaine and vitamin B6. However, different patients may respond to the disease in different ways. It is possible that some people might not benefit from the same at all.
DID YOU KNOW?
Most serious complications result from blood clots. These episodes can be life-threatening. Dislocated lenses of the eyes can seriously damage vision. Lens replacement surgery may be needed. Intellectual disability is a serious consequence of the disease. But, it can be reduced if diagnosed early.