Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia
| Autor: | Tze Tze Liu, Yin-Hsiu Chien, Shinn Forng Peng, Shih Chuan Tseng, Ni-Chung Lee, Wuh-Liang Hwu, Li Chu Chen, Ai Chu Huang, Li Wen Hsu, Ariel Sing Huei Wu |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
medicine.medical_specialty
Methylmalonic acidemia Early detection Brain damage Screening Result Severity of Illness Index Asymptomatic Gastroenterology Central nervous system disease Neonatal Screening Mutase Developmental Neuroscience Internal medicine medicine Humans Hyperammonemia Newborn screening business.industry Infant Newborn Brain Infant Methylmalonyl-CoA Mutase medicine.disease Magnetic Resonance Imaging Phenotype Endocrinology Neurology Child Preschool Pediatrics Perinatology and Child Health Neurology (clinical) medicine.symptom business Metabolism Inborn Errors Methylmalonic Acid |
| Zdroj: | Pediatric Neurology. 39:325-329 |
| ISSN: | 0887-8994 |
| DOI: | 10.1016/j.pediatrneurol.2008.07.018 |
| Popis: | Methylmalonic acidemia caused by an l-methylmalonyl-CoA mutase deficiency. The mut(0) 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 (pH7.2), but all had various degrees of hyperammonemia (range, 127-1,244 mumol/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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect