The AHCY gene provides instructions for producing the enzyme S-adenosylhomocysteine hydrolase. This enzyme converts the S-adenosyl homocysteine into the compound homocysteine. Homocysteine may be converted back to methionine or into another amino acid, cysteine.A deficiency of any of these enzymes results in a buildup of methionine in the body, and may cause signs and symptoms related to hypermethioninemia. Diagnosis
People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia exhibit learning disabilities, mental retardation, and other neurological problems; delays in motor skills such as standing or walking; sluggishness; muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled cabbage.Hypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia and galactosemia, which also involve the faulty breakdown of particular molecules. It can also result from liver disease or excessive dietary intake of methionine from consuming large amounts of protein or a methionine-enriched infant formula. Treatment
See also
List of amino acid metabolism disorders

References


== External links ==
The FDA granted approval of Evkeeza to Regeneron Pharmaceuticals, Inc.

Society and culture
Legal status
On 22 April 2021, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) adopted a positive opinion, recommending the granting of a marketing authorization under exceptional circumstances for the medicinal product Evkeeza, intended for the treatment of adult and adolescent patients aged 12 years and older with homozygous familial hypercholesterolaemia (HoFH). The applicant for this medicinal product is Regeneron Ireland Designated Activity Company (DAC). Evinacumab was approved for medical use in the European Union in June 2021. References
Further reading
Dewey FE, Gusarova V, Dunbar RL, ODushlaine C, Schurmann C, Gottesman O,  et al. (July 2017). "Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease". N Engl J Med. 377 (3): 211–221. doi:10.1056/NEJMoa1612790. PMC 5800308. PMID 28538136. External links
"Evinacumab". Drug Information Portal. U.S. National Library of Medicine.