HIGH HOMOCYSTEINE? WHAT THE PAEDIATRICIAN NEEDS TO KNOW

Hyperhomocysteinemia may cause concern to the paediatrician due to its correlation with increased cardiovascular risk. In paediatric age, the most common cause is a nutritional vitamin deficiency, particularly vitamin B12 or folate, which can be found in subjects who follow a lacto-ovo-vegetarian diet or one devoid of animal-derived foods for socioeconomic, cultural, or religious reasons. Hyperhomocysteinemia is not uncommon in infants born to mothers with vitamin deficiency and such condition can lead to their neurodevelopmental impairment. Genetic causes are rare. Therefore, a correct diagnostic and therapeutic approach is essential, so that to allow the paediatrician to identify and manage most cases of hyperhomocysteinemia in the outpatient setting, as well as to recognize the red flags for severe disease that require a specialist evaluation.