SynthesisOrphanet journal of rare diseases2024
Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.
Synthesis in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 20 citations in OpenAlex.
- The relationship between cobalamin C deficiency and unexplained pediatric pulmonary hypertension.Pediatric research · 2026Article
- Reversible Pulmonary Hypertension in CblC Deficiency (MMACHC c.80 A>G): long-term outcomes of metabolic and PH-targeted therapy.Pediatric research · 2026Article
- [Diagnostic accuracy of tandem mass spectrometry combined with artificial intelligence for neonatal methylmalonic acidemia and associated factors].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Assessment of blood cobalt levels and safety of long-term hydroxocobalamin therapy in patients with cblC defect.Frontiers in nutrition · 2026Article
- Encephalitis-like presentation of methylmalonic acidemia with homocystinuria in a postpartum woman: a case report.Frontiers in psychiatry · 2026Article
- Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives.Frontiers in nutrition · 2026Review
- Methylmalonate accumulation contributes to myocardial vulnerability post-reperfusion: a novel therapeutic target and prognostic biomarker.BMC medicine · 2025Article
- Animal models of methylmalonic acidemia: insights and challenges.Orphanet journal of rare diseases · 2025Review
- Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment.International journal of neonatal screening · 2025Article
- Accelerating the diagnosis of Chinese cblC type MMA patients by multiplex PCR sequencing method.Pediatric research · 2025Article
- Faster, affordable, and reliable diagnosis of cobalamin C disease by targeted sequencing.Pediatric research · 2025Article
- Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review.Metabolism open · 2025Article
- Review
- Review
- Retrospective analysis of diagnosis and treatment in 9 cases of childhood-onset methylmalonic acidemia in China.Frontiers in neurology · 2025Article
- Characteristics of clinical manifestations and molecular genetics of inherited hyperhomocysteinemia in children and adolescents: a single center experience from China.Frontiers in neurology · 2025Article
- A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics.Molecular genetics and metabolism reports · 2024Article
- Renal Replacement Therapy in Methylmalonic Aciduria-Related Metabolic Failure: Case Report and Literature Review.Journal of clinical medicine · 2024Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionCombined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult. The disease is characterised by an elevation of methylmalonic acid (MMA) and homocysteine and a decreased production of methionine. The aim is to review existing scientific literature of all late onset cblC patients in terms of clinical symptoms, diagnosis, and outcome.
methodsA bibliographic database search was undertaken in PubMed (MEDLINE) complemented by a reference list search. We combined search terms regarding cblC disease and late onset. Two review authors performed the study selection, data extraction and quality assessment.
resultsOf the sixty-five articles included in this systematic review, we collected a total of 199 patients. The most frequent clinical symptoms were neuropathy/myelopathy, encephalopathy, psychiatric symptoms, thrombotic microangiopathy, seizures, kidney disease, mild to severe pulmonary hypertension with heart failure and thrombotic phenomena. There were different forms of supplementation used in the different studies collected and, within these studies, some patients received several treatments sequentially and/or concomitantly. The general outcome was: 64 patients recovered, 78 patients improved, 4 patients did not improve, or the disease progressed, and 12 patients died.
conclusionsMost scientific literature regarding the late onset cblC disease comes from case reports and case series. In most cases treatment initiation led to an improvement and even recovery of some patients. The lack of complete recovery underlines the necessity for increased vigilance in unclear clinical symptoms for cblC disease.
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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.