homocystinuria
Sign in to saveAlso known as CBS deficiency, Homocystinuria (disorder), cystathionine beta synthase deficiency, cystathionine synthase deficiency
Homocystinuria (HCU) is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected. Symptoms of homocystinuria can also be caused by a deficiency of vitamins B6, B12, or folate.
Key facts
- Medical condition (new).name
- Homocystinuria
- Medical condition (new).synonyms
- Cystathionine beta synthase deficiency or CBS deficiency
- Medical condition (new).image
- L-Homocysteine.svg
- Medical condition (new).caption
- Homocysteine
via Wikipedia infobox
Research
2,624 papers- Homocystinuria.Ergebnisse der inneren Medizin und Kinderheilkunde · 1982
- Homocystinuria and ocular complications - A review.Indian journal of ophthalmology · 2022
- Homocystinuria: Therapeutic approach.Clinica chimica acta; international journal of clinical chemistry · 2016
- Homocystinuria: pathogenetic mechanisms.The American journal of the medical sciences · 1977
- The Spectrum of Mutations of Homocystinuria in the MENA Region.Genes · 2020
via PubMed
Wikidata facts
- Instance of
- genetic disease
- Subclass of
- disease
- Image
- L-Homocysteine.svg
Show 6 more facts
- health specialty
- medical genetics
- Commons category
- Homocystinuria
- on focus list of Wikimedia project
- WikiProject Medicine
- NCI Thesaurus ID
- C84765
- exact match
- www.orpha.net/ORDO/Orphanet_394
- drug or therapy used for treatment
- betaine
via Wikidata · CC0
~6 min read
Encyclopedic overview
11 sectionsContents
- Signs and symptoms
- Cause
- Diagnosis
- Treatment
- Recommended diet
- Prognosis
- Society and culture
- See also
- References
- Further reading
- External links
Homocystinuria (HCU) is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected. Symptoms of homocystinuria can also be caused by a deficiency of vitamins B6, B12, or folate.
==Signs and symptoms== This defect leads to a multi-systemic disorder of the connective tissue, muscles, central nervous system (CNS), and cardiovascular system. Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of the amino acid homocysteine in the serum and an increased excretion of homocysteine in the urine. Infants appear to be normal and early symptoms, if any are present, are vague.
Excerpted from Wikipedia’s “homocystinuria” article, available under the CC BY-SA 4.0 licence.