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Reliable and powerful laboratory markers of cobalamin deficiency in the newborn: plasma and urinary methylmalonic acid
Authors:Zuhal Kalay  Ali Islek  Mesut Parlak  Ahmet Kirecci  Ozgur Guney  Esad Koklu
Affiliation:1. Department of Pediatrics, Kahramanmaras Necip Faz?l City Hospital, Kahramanmaras, Turkey,;2. Department of Pediatric Gastroenterology, Ataturk University Hospital, Erzurum, Turkey,;3. Department of Pediatrics, Division of Endocrinology, Kahramanmaras Necip Faz?l City Hospital, Kahramanmaras, Turkey,;4. Department of Obstetrics and Gynecology, Kahramanmaras Necip Faz?l City Hospital, Kahramanmaras, Turkey,;5. Department of Biochemistry, Kahramanmaras Necip Faz?l City Hospital, Kahramanmaras, Turkey,;6. Department of Pediatrics, Division of Neonatology, Megapark Hospital, Kahramanmaras, Turkey, and
Abstract:
Background: Diagnosing cobalamin deficiency is critical, given the high prevalence of cobalamin deficiency particularly in developing countries. Measuring serum cobalamin levels is of limited diagnostic sensitivity, in other words its specificity and sensitivity are low. The present study investigated the changes in the levels of metabolic markers – plasma homocysteine, plasma methylmalonic acid (MMA) and urinary MMA – of cobalamin metabolism.

Methods: Plasma cobalamin and serum folic acid were studied in 206 pregnant women over the last four prenatal weeks. Plasma cobalamin, folic acid, homocysteine, MMA from umbilical cord blood and urinary MMA in newborns were studied.

Results: Plasma cobalamin values were low in 66% of the mothers. There was a positive correlation between maternal and neonatal plasma cobalamin values (r?=?0.72, p?Conclusion: Plasma MMA and urinary MMA B12 are the most robust markers of cobalamin deficiency. As a non-invasive method, urinary MMA is a sensitive method in demonstrating cobalamin deficiency in the newborn.
Keywords:Cobalamin  methylmalonic acid  newborn  pregnant women
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