Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia
Journal
Pediatric Neurology
Journal Volume
39
Journal Issue
5
Pages
325-329
Date Issued
2008
Author(s)
Huang A.-C.
Liu T.-T.
Wu A.S.-H.
Chen L.-C.
Hsu L.-W.
Tseng S.-C.
Abstract
Methylmalonic acidemia caused by an l-methylmalonyl-CoA mutase deficiency. The mut0 type is associated with significant mortality and morbidity, but tandem mass spectrometry has made early detection possible. Five patients were identified through newborn screening for elevated propionylcarnitine (C3-carnitine) levels. These patients received a positive screening result at a median age of 10 days (range, 5-18 days). When treated at a median age of 11 days (range, 3-50 days), 2 patients were asymptomatic, and only one was significantly acidotic (pH <7.2), but all had various degrees of hyperammonemia (range, 127-1,244 μmol/L). Magnetic resonance imaging of the brain was performed in 4 patients shortly after diagnosis, and the results were all abnormal. Four patients were followed. There was no further metabolic decompensation after the initial episodes, but their mean developmental quotient was only 50. These results suggest that early hyperammonemia can lead to significant brain damage in methylmalonic acidemia. Therefore, treatment of this disease in newborns must be more aggressive. ? 2008 Elsevier Inc. All rights reserved.
SDGs
Other Subjects
article; brain damage; clinical article; clinical feature; human; hyperammonemia; infant; methylmalonic acidemia; morbidity; mortality; newborn; newborn screening; nuclear magnetic resonance imaging; pH; preschool child; priority journal; tandem mass spectrometry; Brain; Child, Preschool; Humans; Hyperammonemia; Infant; Infant, Newborn; Magnetic Resonance Imaging; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Neonatal Screening; Phenotype; Severity of Illness Index
Type
journal article