Methylmalonic aciduria

Methylmalonic Aciduria and Homocystinemia, cobalamin C (cblC) is an inherited disease of vitamin B12 metabolism with a wide spectrum of clinical manifestations. cblC presenting with pulmonary hypertension (PH) as leading sympotom is rare and easily misdiagnosed because of limited awareness.

4p viorochimaru2711 29-05-2020 5 1   Download

Acquired Abnormality of Cobalamin Metabolism: Nitrous Oxide Inhalation Nitrous oxide irreversibly oxidizes methylcobalamin to an inactive precursor; this inactivates methionine synthase. Megaloblastic anemia has occurred in patients undergoing prolonged N2O anesthesia (e.g., in intensive care units). A neuropathy resembling cobalamin neuropathy has also been described in dentists and anesthetists who are repeatedly exposed to N 2O. Methylmalonic aciduria does not occur as adocobalamin is not inactivated by N2O.

5p thanhongan 07-12-2010 63 6   Download