Brain damage by mild metabolic derangements in methylmalonic acidemia

Pediatric Neurology
Ni-Chung LeeWuh-Liang Hwu

Abstract

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 (pH <7.2), 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.

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Citations

Sep 10, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·I-Jung TsaiYong-Kwei Tsau
Oct 16, 2009·Journal of Inherited Metabolic Disease·M H BeauchampA Boneh
Sep 27, 2013·Journal of Human Genetics·Daisuke FujisawaFumio Endo
Sep 11, 2014·Orphanet Journal of Rare Diseases·Matthias R BaumgartnerAnupam Chakrapani
Jul 7, 2010·Journal of the Chinese Medical Association : JCMA·Kang-Hsiang ChengDau-Ming Niu
Jul 14, 2012·Advances in Pediatrics·Angela SunDerek A Wong
Jan 9, 2013·Brain, Behavior, and Immunity·T Michael O'SheaUNKNOWN ELGAN Study Investigators
Nov 3, 2016·Current Opinion in Pediatrics·Jamie L Fraser, Charles P Venditti
May 15, 2018·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Nihaal ReddyBruno P Soares
Oct 29, 2018·Clinical and Translational Science·Molly E McCarthyLaura L Jelliffe-Pawlowski
Jun 23, 2010·Journal of Inherited Metabolic Disease·Dau-Ming NiuKwang-Jen Hsiao
Oct 30, 2012·Metabolic Brain Disease·Chee-Seng LeeNi-Chung Lee

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