Hyperhomocysteinemia in Adult Patients: A Treatable Metabolic Condition

Author:

González-Lamuño Domingo1ORCID,Arrieta-Blanco Francisco Jesús2ORCID,Fuentes Elena Dios3,Forga-Visa María Teresa4,Morales-Conejo Monstserrat5,Peña-Quintana Luis6ORCID,Vitoria-Miñana Isidro7ORCID

Affiliation:

1. Pediatrics Department, Marqués de Valdecilla University Hospital, 39008 Santander, Spain

2. Adult Inborn Errors of Metabolism Unit, Ramón y Cajal University Hospital, 28034 Madrid, Spain

3. Endocrinology and Nutrition Department, Virgen del Rocío University Hospital, 41013 Sevilla, Spain

4. Endocrinology and Nutrition Department, Clínic Hospital, 08036 Barcelona, Spain

5. Unit for Congenital Metabolic Diseases and Other Rare Diseases, Internal Medicine Department, 12 de Octubre University Hospital, 28041 Madrid, Spain

6. Pediatric Gastroenterology and Nutrition Unit, Insular Materno-Infantil University Hospital Complex, Asociación Canaria de Investigación Pediátrica, Centro de Investigación Biomédica en Red de la Fisiopatología de la Obesidad y Nutrición, University of Las Palmas de Gran Canaria, 35016 Las Palmas de Gran Canaria, Spain

7. Nutrition and Metabolic Diseases Unit, La Fe University Hospital, 46026 Valencia, Spain

Abstract

Hyperhomocysteinemia (HHcy) is recognized as an independent risk factor for various significant medical conditions, yet controversy persists around its assessment and management. The diagnosis of disorders afffecting homocysteine (Hcy) metabolism faces delays due to insufficient awareness of its clinical presentation and unique biochemical characteristics. In cases of arterial or venous thrombotic vascular events, particularly with other comorbidities, it is crucial to consider moderate to severe HHcy. A nutritional approach to HHcy management involves implementing dietary strategies and targeted supplementation, emphasizing key nutrients like vitamin B6, B12, and folate that are crucial for Hcy conversion. Adequate intake of these vitamins, along with betaine supplementation, supports Hcy remethylation. Lifestyle modifications, such as smoking cessation and regular physical activity, complement the nutritional approach to enhance Hcy metabolism. For individuals with HHcy, maintaining a plasma Hcy concentration below 50 μmol/L consistently is vital to lowering the risk of vascular events. Collaboration with healthcare professionals and dietitians is essential for developing personalized dietary plans addressing the specific needs and underlying health conditions. This integrated approach aims to optimize metabolic processes and reduce the associated health risks.

Funder

AECOM The Spanish Society for the Study of Inborn Errors of Metabolism

Recordati Rare Diseases

Publisher

MDPI AG

Subject

Food Science,Nutrition and Dietetics

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