Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients

被引：0
作者：
Jinrong Liu
Yun Peng
Nan Zhou
Xiaorong Liu
Qun Meng
Hui Xu
Shunying Zhao
机构：
[1] Capital Medical University,Department of Respiratory Medicine, Beijing Children’s Hospital
[2] Capital Medical University,Imaging Center, Beijing Children’s Hospital
[3] Capital Medical University,Department of Nephrology, Beijing Children’s Hospital
来源：
Orphanet Journal of Rare Diseases | / 12卷
关键词：
Methylmalonic acidemia; Homocysteinemia; Homocystinuria; Diffuse Lung disease; Hypertension arterial pulmonary; Children;
D O I：
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学科分类号：
摘要：
Combined methylmalonic acidemia (MMA) and homocysteinemia are a group of autosomal recessive disorders caused by inborn errors of cobalamin metabolism, including CblC, D, F, and J, with cblC being the most common subtype. The clinical manifestations of combined MMA and homocysteinemia vary, but typically include neurologic, developmental and hematologic abnormalities.
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