Homocystinuria, also known as Cystathionine Beta Synthase Deficiency, is an inherited disorder that refrain the body from processing the essential amino acid methionine. While Amino Acids are the building blocks of protein, adults need it to maintain their body’s nitrogen balance and kids need it for growth. The symptoms of Homocystinuria include nearsightedness, learning disabilities, osteoporosis, chest deformities, abnormal blood clots and long arms and legs.
HOW IS HOMOCYSTINURIA DIAGNOSED?
A Pediatric or General Physician diagnoses Homocystinuria by conducting a series of tests to determine the severity of the disease. A genetic testing, amino acid screen of the blood and urine check or a liver biopsy is conducted to diagnose Homocystinuria.
HOW IS HOMOCYSTINURIA TREATED?
There is no specific cure for Homocystinuria. Dietary changes may provide relief from symptoms. Taking supplemental vitamin B6 helps in some cases of Homocystinuria. A low protein diet is recommended for patients.