ArticleOrphanet journal of rare diseases2017
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients.
Article in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 42 citations in OpenAlex.
- Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.Orphanet journal of rare diseases · 2024Pooled it
- Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin BCell reports. Medicine · 2022Pooled it
- Review
- Addressing micronutrient deficiencies and vitamin metabolism disorders in pediatric pulmonary hypertension: a strategic proposal for low- and middle-income countries.Frontiers in cardiovascular medicine · 2026Review
- Long-term outcome of CblC deficiency complicated with pulmonary hypertension.Orphanet journal of rare diseases · 2025Article
- Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect.Frontiers in cardiovascular medicine · 2025Article
- Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.Orphanet journal of rare diseases · 2024Article
- Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.International journal of neonatal screening · 2024Article
- Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations.Molecular genetics and metabolism · 2023Review
- Different Pattern of Cardiovascular Impairment in Methylmalonic Acidaemia Subtypes.Frontiers in pediatrics · 2022Article
- Acute Lymphoblastic Leukemia in Combined Methylmalonic Acidemia and Homocysteinemia (cblC Type): A Case Report and Literature Review.Frontiers in genetics · 2022Article
- Rare cause of coronary artery ectasia in children: A case report of methylmalonic acidemia with hyperhomocysteinemia.Frontiers in pediatrics · 2022Article
- Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager.Frontiers in genetics · 2022Article
- Methylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment.Frontiers in neurology · 2022Article
- Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension.Indian journal of pediatrics · 2021Article
- Dandy-Walker malformation in methylmalonic acidemia: a rare case report.BMC pediatrics · 2021Article
- Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying gene c.609G>A mutation.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2021Article
- Adult-onset hypoxaemia, diffuse lung lesions, and pulmonary hypertension in cobalamin C defect: a case report.European heart journal. Case reports · 2021Article
- Hyperhomocysteinemia-related lung disease and hemolytic anemia with bone marrow features masquerading as myelodysplasia.American journal of blood research · 2021Article
- Early Onset Predominantly Diffuse Lung Disease in an Infant of Combined Methylmalonic Acidemia With Hyperhomocysteinemia Cobalamin C Type.Indian pediatrics · 2020Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.