Abstract
Homocystinuria is a medical condition that can have widespread and harmful effects on multiple organ systems within the body. This disease is caused by a deficiency in one of the enzymes involved in the methionine metabolism pathway. One example would be a deficiency in cystathionine-β-synthase (CBS), which is seen in classical homocystinuria. A deficiency in CBS can lead to elevated levels of homocysteine (HCY) and possible depletion of methionine and/or cysteine. There are several different treatment options for patients with this condition, one of which is the administration of the drug betaine. Here we review the use of betaine to decrease these elevated levels of homocysteine back to within normal ranges. Published literature indicates that the use of this choline derivative is most beneficial to patients who are either not compliant with the recommended low methionine and low protein diet or wish to consume a less restricted diet.
Highlights
Health Functionalities of Betaine in Patients With HomocystinuriaReviewed by: Mar Ruperto, Universidad San Pablo CEU, Spain Vladimir Lj Jakovljevic, University of Kragujevac, Serbia Agata Chmurzynska, Poznan University of Life Sciences, Poland
Homocystinuria is a genetically inherited metabolic disorder that can have varying disease origins
The enzyme adenosylhomocysteinase removes the adenosine group, resulting in the intermediate homocysteine. At this point in the pathway, homocysteine can proceed in one of two directions; it can be converted back into methionine via methionine synthase and its cofactor vitamin B12 or it can be turned into cystathionine via the enzyme cystathionine-β-synthase and its cofactor vitamin B6
Summary
Reviewed by: Mar Ruperto, Universidad San Pablo CEU, Spain Vladimir Lj Jakovljevic, University of Kragujevac, Serbia Agata Chmurzynska, Poznan University of Life Sciences, Poland. Specialty section: This article was submitted to Clinical Nutrition, a section of the journal
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