25

Homocystinuria synonyms

What other names are the Homocystinuria known by? Synonyms and other terms with which Homocystinuria is known.

Homocystinuria is also known as...

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:




  • Cystathionine beta-synthase deficiency

  • Homocysteine metabolism disorder

  • Methionine metabolic disorder

  • Homocysteine remethylation defect

  • CBS deficiency

  • Cystathionine beta-synthase deficiency syndrome



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.


Diseasemaps
1 answer

Homocystinuria is also known as...

Homocystinuria life expectancy

What is the life expectancy of someone with Homocystinuria?

2 answers
Celebrities with Homocystinuria

Celebrities with Homocystinuria

1 answer
Is Homocystinuria hereditary?

Is Homocystinuria hereditary?

2 answers
Is Homocystinuria contagious?

Is Homocystinuria contagious?

2 answers
Natural treatment of Homocystinuria

Is there any natural treatment for Homocystinuria?

1 answer
ICD9 and ICD10 codes of Homocystinuria

ICD10 code of Homocystinuria and ICD9 code

2 answers
Living with Homocystinuria

Living with Homocystinuria. How to live with Homocystinuria?

1 answer
Homocystinuria diet

Homocystinuria diet. Is there a diet which improves the quality of life of ...

1 answer

World map of Homocystinuria

Find people with Homocystinuria through the map. Connect with them and share experiences. Join the Homocystinuria community.

Stories of Homocystinuria

HOMOCYSTINURIA STORIES
Homocystinuria stories
he is now 20. He has had lens replacement in both eyes and jaw surgery in last year. He is b6 responsive. 

Tell your story and help others

Tell my story

Homocystinuria forum

HOMOCYSTINURIA FORUM

Ask a question and get answers from other users.

Ask a question

Find your symptoms soulmates

From now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Symptoms soulmates are people with similar symptoms to you.

Symptoms soulmates

Add your symptoms and discover your soulmates map

Soulmates map