Homocystinuria, also known as cystathionine beta-synthase deficiency, is a rare genetic disorder that affects the metabolism of the amino acid methionine. It is characterized by the body's inability to break down methionine properly, leading to the buildup of homocysteine in the blood and urine.
Synonyms for Homocystinuria:
Individuals with homocystinuria may experience a wide range of symptoms, including developmental delays, intellectual disability, osteoporosis, marfanoid features (such as tall stature, long limbs, and joint abnormalities), eye problems (such as nearsightedness, dislocated lenses, and glaucoma), thromboembolic events (such as blood clots), and psychiatric disorders.
Early diagnosis and treatment are crucial in managing homocystinuria. Treatment typically involves a low-methionine diet supplemented with specific vitamins and minerals to help normalize homocysteine levels. This may include vitamin B6, vitamin B12, folate, and betaine. Regular monitoring and follow-up with healthcare professionals are necessary to ensure proper management and prevent complications.
Genetic counseling is recommended for individuals with homocystinuria and their families, as the condition is inherited in an autosomal recessive manner. This means that both parents must carry a mutated gene for their child to be affected. Prenatal testing and preimplantation genetic diagnosis may be available for families at risk.
Overall, homocystinuria is a rare metabolic disorder with various synonyms, including cystathionine beta-synthase deficiency, homocysteine metabolism disorder, and methionine metabolic disorder. It is important to raise awareness about this condition to ensure early detection, proper management, and improved quality of life for individuals living with homocystinuria.