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Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
Carrillo-Carrasco N, Chandler RJ, Venditti CP. Carrillo-Carrasco N, et al. J Inherit Metab Dis. 2012 Jan;35(1):91-102. doi: 10.1007/s10545-011-9364-y. Epub 2011 Jul 12. J Inherit Metab Dis. 2012. PMID: 21748409 Free PMC article. Review.
Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is stated to be the most common inherited disorder of cobalamin metabolism. ...
Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism …
Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.
Arhip L, Brox-Torrecilla N, Romero I, Motilla M, Serrano-Moreno C, Miguélez M, Cuerda C. Arhip L, et al. Orphanet J Rare Dis. 2024 Jan 20;19(1):20. doi: 10.1186/s13023-024-03021-3. Orphanet J Rare Dis. 2024. PMID: 38245797 Free PMC article. Review.
INTRODUCTION: Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. ...METHODS: A bibliographic database search was undertaken in PubMed (MEDLINE) complemented by a refe …
INTRODUCTION: Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalam …
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP. Manoli I, et al. J Inherit Metab Dis. 2023 Jul;46(4):554-572. doi: 10.1002/jimd.12636. Epub 2023 Jun 6. J Inherit Metab Dis. 2023. PMID: 37243446 Review.
Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl-CoA mutase (MMUT) enzyme or the synthesis and transport of its cofactor, 5'-deoxy-adenosylcobalamin. ...Additional circulating and imaging mar …
Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl-Co …
Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.
Chakrapani A, Stojanovic J, Vara R, De Nictolis F, Spada M, Dionisi-Vici C. Chakrapani A, et al. J Inherit Metab Dis. 2023 May;46(3):466-481. doi: 10.1002/jimd.12613. Epub 2023 Apr 24. J Inherit Metab Dis. 2023. PMID: 37067856 Review.
For patients with MMA who present with chronic kidney disease, consideration should be given for combined liver and kidney transplants. Transplantation in PA and MMA carries a high risk of complications and requires highly specialised pre-operative and peri-operative manag …
For patients with MMA who present with chronic kidney disease, consideration should be given for combined liver and kidney transplant …
Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemia.
Venturoni LE, Venditti CP. Venturoni LE, et al. J Inherit Metab Dis. 2022 Sep;45(5):872-888. doi: 10.1002/jimd.12534. Epub 2022 Jul 21. J Inherit Metab Dis. 2022. PMID: 35766386 Review.
Hereditary methylmalonic acidemia (MMA) caused by deficiency of the enzyme methylmalonyl-CoA mutase (MMUT) is a relatively common and severe organic acidemia. The recalcitrant nature of the condition to conventional dietary and medical management has led to the use …
Hereditary methylmalonic acidemia (MMA) caused by deficiency of the enzyme methylmalonyl-CoA mutase (MMUT) is a relatively com …
Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia.
Melo DR, Kowaltowski AJ, Wajner M, Castilho RF. Melo DR, et al. J Bioenerg Biomembr. 2011 Feb;43(1):39-46. doi: 10.1007/s10863-011-9330-2. J Bioenerg Biomembr. 2011. PMID: 21271280 Review.
Methylmalonic acidemia is one of the most prevalent inherited metabolic disorders involving neurological deficits. ...This review summarizes changes in mitochondrial energy metabolism occurring in methylmalonic acidemia, focusing mainly on the effects …
Methylmalonic acidemia is one of the most prevalent inherited metabolic disorders involving neurological deficits. ...This rev …
Current role of liver transplantation for methylmalonic acidemia: a review of the literature.
Kasahara M, Horikawa R, Tagawa M, Uemoto S, Yokoyama S, Shibata Y, Kawano T, Kuroda T, Honna T, Tanaka K, Saeki M. Kasahara M, et al. Pediatr Transplant. 2006 Dec;10(8):943-7. doi: 10.1111/j.1399-3046.2006.00585.x. Pediatr Transplant. 2006. PMID: 17096763 Review.
To evaluate the current role of liver transplantation (LT) for methylmalonic acidemia (MMA), we reviewed the literature on outcomes of this treatment, and describe three of our own cases of living-donor liver transplantation (LDLT). ...Transplantation mode was decea …
To evaluate the current role of liver transplantation (LT) for methylmalonic acidemia (MMA), we reviewed the literature on out …
Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review.
Chen M, Zhuang J, Yang J, Wang D, Yang Q. Chen M, et al. Medicine (Baltimore). 2017 Oct;96(43):e8284. doi: 10.1097/MD.0000000000008284. Medicine (Baltimore). 2017. PMID: 29068997 Free PMC article. Review.
RATIONALE: Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (VitB12) metabolic disorders. ...Although the serum vitamin B12 was normal, further investigation found the concentration of …
RATIONALE: Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coen …
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.
Huemer M, Scholl-Bürgi S, Hadaya K, Kern I, Beer R, Seppi K, Fowler B, Baumgartner MR, Karall D. Huemer M, et al. Orphanet J Rare Dis. 2014 Nov 15;9:161. doi: 10.1186/s13023-014-0161-1. Orphanet J Rare Dis. 2014. PMID: 25398587 Free PMC article. Review.
The majority of patients showed marked biochemical and clinical response to treatment with parenteral hydroxocobalamin combined with oral betaine, folate, carnitine and rarely methionine. ...
The majority of patients showed marked biochemical and clinical response to treatment with parenteral hydroxocobalamin combined with …
Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature.
Lubrano R, Elli M, Rossi M, Travasso E, Raggi C, Barsotti P, Carducci C, Berloco P. Lubrano R, et al. Pediatr Nephrol. 2007 Aug;22(8):1209-14. doi: 10.1007/s00467-007-0460-z. Epub 2007 Mar 31. Pediatr Nephrol. 2007. PMID: 17401587 Free article. Review.
Methylmalonic acidemia (MMA) is an inborn error of organic acid metabolism. Patients with severe disease develop many complications despite treatment; often, the disease progresses to severe damage of the central nervous system or to end-stage renal disease (ESRD). …
Methylmalonic acidemia (MMA) is an inborn error of organic acid metabolism. Patients with severe disease develop many complica …
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