Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients.
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.We report 4 children with combined MMA and homocysteinemia who presented predominantly with late-onset diffuse lung diseases (DLD). Of these, 3 accompanied by pulmonary arterial hypertension (PAH), 1 accompanied by hypertension, and 2 accompanied by renal thrombotic microangiopathy (TMA), which was confirmed by renal biopsy. This confirms combined MMA and homocysteinemia should be considered in the differential diagnosis of DLD with or without PAH or renal TMA.
Department of Respiratory Medicine, Beijing Children's Hospital, Capital Medical University, Nanlishi Road 56, Xicheng District, Beijing, People's Republic of China.
Jinrong
J
Liu
Imaging Center, Beijing Children's Hospital, Capital Medical University, Nanlishi Road 56, Xicheng District, Beijing, People's Republic of China.
Yun
Y
Peng
Department of Nephrology, Beijing Children's Hospital, Capital Medical University, Nanlishi Road 56, Xicheng District, Beijing, People's Republic of China.
Nan
N
Zhou
Department of Nephrology, Beijing Children's Hospital, Capital Medical University, Nanlishi Road 56, Xicheng District, Beijing, People's Republic of China.
Xiaorong
X
Liu
Department of Nephrology, Beijing Children's Hospital, Capital Medical University, Nanlishi Road 56, Xicheng District, Beijing, People's Republic of China.
Qun
Q
Meng
Department of Respiratory Medicine, Beijing Children's Hospital, Capital Medical University, Nanlishi Road 56, Xicheng District, Beijing, People's Republic of China.
Hui
H
Xu
Department of Respiratory Medicine, Beijing Children's Hospital, Capital Medical University, Nanlishi Road 56, Xicheng District, Beijing, People's Republic of China. zhaoshunyingdoc@sina.com.
Shunying
S
Zhao
D001622:Betaine / Q000008:administration & dosage / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D005260:Female; D005492:Folic Acid / Q000008:administration & dosage / Q000627:therapeutic use; D006712:Homocystinuria / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007223:Infant; D008171:Lung Diseases / Q000209:etiology* / Q000473:pathology; D008297:Male; D014805:Vitamin B 12 / Q000008:administration & dosage / Q000627:therapeutic use; D014806:Vitamin B 12 Deficiency / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology; D025101:Vitamin B 6 / Q000008:administration & dosage / Q000627:therapeutic use
D001622:Betaine; D025101:Vitamin B 6; D005492:Folic Acid; D014805:Vitamin B 12
Children; Diffuse Lung disease; Homocysteinemia; Homocystinuria; Hypertension arterial pulmonary; Methylmalonic acidemia