| Homocystinuria | |
|---|---|
| Other names | Cystathionine beta synthase deficiency or CBS deficiency[1] |
 | |
| Homocysteine | |
| Specialty | Endocrinology, medical genetics  |
Homocystinuria (HCU)[2] is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase.[3] 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.[3]
- ^ Online Mendelian Inheritance in Man (OMIM): 236200
- ^ "Homocystinuria". 9 May 2018.
- ^ a b Tao, Le (2020-01-02). First aid for the USMLE step 1 2020 : a student-to-student guide. Bhushan, Vikas,, Sochat, Matthew,, Kallianos, Kimberly,, Chavda, Yash,, Zureick, Andrew H. (Andrew Harrison), 1991-, Kalani, Mehboob. New York. ISBN 9781259837630. OCLC 948547794.
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