[Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect].
Methylmalonyl CoA mutase deficiency due to MUT gene defect has been known as the main cause of isolated methylmalonic acidemia in Mainland China. This study reported a patient with isolated methylmalonic aciduria (MUT type) characterized as acute brainstem encephalitis and myelitis. The previously healthy girl presented with fever, lethargy and progressive weakness in her extremities at the age of 3 years and 2 months. Three day later, she had respiratory distress and consciousness. Cranial MRI revealed bilateral symmetrical lesion of pallidum, brain stem and spinal cord, indicating acute brainstem encephalitis and myelitis. Her blood propionylcarnitine (6.83 μmol/L vs normal range 1.0 to 5.0 μmol/L) and urinary methylmalonic acid (133.22 mmol/mol creatinine vs normal range 0.2 to 3.6 mmol/mol creatinine) increased significantly. Plasma total homocysteine was normal. On her MUT gene, a reported mutation (c.1630_1631GG>TA) and a novel mutation (c.1663C>T, p.A555T) were identified, which confirmed the diagnosis of methylmalonic aciduria (MUT type). After cobalamin injection, protein-restricted diet with the supplements of special formula and L-carnitine, progressive improvement has been observed. The clinical manifestation of patients with methylmalonic aciduria is complex. Metabolic study and gene analysis are keys for the diagnosis and treatment of the disorder.
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. organic.acid@126.com.
Yu-Peng
YP
Liu
Yuan
Y
Ding
Xi-Yuan
XY
Li
Hai-Jun
HJ
Wang
Jin-Qing
JQ
Song
Jin-Tang
JT
Ye
Tong-Fei
TF
Wu
Yan-Ling
YL
Yang
D000208:Acute Disease; D000592:Amino Acid Metabolism, Inborn Errors / Q000209:etiology*; D001933:Brain Stem / Q000473:pathology*; D002675:Child, Preschool; D004660:Encephalitis / Q000209:etiology*; D005260:Female; D006801:Humans; D008765:Methylmalonyl-CoA Mutase / Q000235:genetics*; D009154:Mutation; D009187:Myelitis / Q000209:etiology*
D008765:Methylmalonyl-CoA Mutase