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173 results

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Page 1
New insights into the pathophysiology of methylmalonic acidemia.
Head PE, Meier JL, Venditti CP. Head PE, et al. J Inherit Metab Dis. 2023 May;46(3):436-449. doi: 10.1002/jimd.12617. J Inherit Metab Dis. 2023. PMID: 37078237 Free PMC article. Review.
Methylmalonic acidemia (MMA) is a severe inborn error of metabolism that is characterized by pleiotropic metabolic perturbations and multiorgan pathology. ...While earlier studies have focused on the potential direct toxicity of metabolites such as methylmalonic and …
Methylmalonic acidemia (MMA) is a severe inborn error of metabolism that is characterized by pleiotropic metabolic perturbatio …
Optic neuropathy in methylmalonic acidemia and propionic acidemia.
Martinez Alvarez L, Jameson E, Parry NR, Lloyd C, Ashworth JL. Martinez Alvarez L, et al. Br J Ophthalmol. 2016 Jan;100(1):98-104. doi: 10.1136/bjophthalmol-2015-306798. Epub 2015 Jul 24. Br J Ophthalmol. 2016. PMID: 26209586 Review.
BACKGROUND: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. ...We here report the clinical feat …
BACKGROUND: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, mani …
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. ...
Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl-Co …
Neurologic outcome following liver transplantation for methylmalonic aciduria.
Martinelli D, Catesini G, Greco B, Guarnera A, Parrillo C, Maines E, Longo D, Napolitano A, De Nictolis F, Cairoli S, Liccardo D, Caviglia S, Sidorina A, Olivieri G, Siri B, Bianchi R, Spagnoletti G, Dello Strologo L, Spada M, Dionisi-Vici C. Martinelli D, et al. J Inherit Metab Dis. 2023 May;46(3):450-465. doi: 10.1002/jimd.12599. Epub 2023 Mar 15. J Inherit Metab Dis. 2023. PMID: 36861405
Neurocognitive evaluation documented significant higher post-transplant developmental/cognitive scores and maturation of executive functions corresponding to improvement of brain atrophy, cortical thickness, and white matter maturation indexes at MRI. ...
Neurocognitive evaluation documented significant higher post-transplant developmental/cognitive scores and maturation of executive fu …
Late-onset cblC defect: clinical, biochemical and molecular analysis.
Ding S, Ling S, Liang L, Qiu W, Zhang H, Chen T, Zhan X, Xu F, Gu X, Han L. Ding S, et al. Orphanet J Rare Dis. 2023 Sep 28;18(1):306. doi: 10.1186/s13023-023-02890-4. Orphanet J Rare Dis. 2023. PMID: 37770946 Free PMC article.
BACKGROUND: cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) are often misdiagnosed due to heterogeneous symptoms. ...Neuropsychiatric symptoms were presented as first symptoms in 68.2% of cases, whic …
BACKGROUND: cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) …
Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.
Chern T, Achilleos A, Tong X, Hill MC, Saltzman AB, Reineke LC, Chaudhury A, Dasgupta SK, Redhead Y, Watkins D, Neilson JR, Thiagarajan P, Green JBA, Malovannaya A, Martin JF, Rosenblatt DS, Poché RA. Chern T, et al. Nat Commun. 2022 Jan 10;13(1):134. doi: 10.1038/s41467-021-27759-7. Nat Commun. 2022. PMID: 35013307 Free PMC article.
Combined methylmalonic acidemia and homocystinuria (cblC) is the most common inborn error of intracellular cobalamin metabolism and due to mutations in Methylmalonic Aciduria type C and Homocystinuria (MMACHC). ...In addition to exhibiting loss of Mmachc, metabolic …
Combined methylmalonic acidemia and homocystinuria (cblC) is the most common inborn error of intracellular cobalamin metabolis …
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
Hörster F, Tuncel AT, Gleich F, Plessl T, Froese SD, Garbade SF, Kölker S, Baumgartner MR; Additional Contributors from E-IMD. Hörster F, et al. J Inherit Metab Dis. 2021 Jan;44(1):193-214. doi: 10.1002/jimd.12297. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32754920 Free article.
Biochemical disturbances during the first crisis were similar in both groups, as well as the age at diagnosis. Z scores of body height and body weight were similar in both groups at birth, but were significantly lower in the mut group at the time of last visit. ...Neurolog …
Biochemical disturbances during the first crisis were similar in both groups, as well as the age at diagnosis. Z scores of body heigh …
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Manoli I, Sysol JR, Head PE, Epping MW, Gavrilova O, Crocker MK, Sloan JL, Koutsoukos SA, Wang C, Ktena YP, Mendelson S, Pass AR, Zerfas PM, Hoffmann V, Vernon HJ, Fletcher LA, Reynolds JC, Tsokos MG, Stratakis CA, Voss SD, Chen KY, Brown RJ, Hamosh A, Berry GT, Chen XS, Yanovski JA, Venditti CP. Manoli I, et al. JCI Insight. 2024 Feb 22;9(4):e174097. doi: 10.1172/jci.insight.174097. JCI Insight. 2024. PMID: 38271099 Free PMC article.
A distinct adipose tissue distribution pattern was observed in patients with methylmalonyl-CoA mutase deficiency, an inborn error of branched-chain amino acid (BCAA) metabolism, characterized by centripetal obesity with proximal upper and lower extremity fat deposition and …
A distinct adipose tissue distribution pattern was observed in patients with methylmalonyl-CoA mutase deficiency, an inborn error of …
Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia.
Wang F, Liang L, Ling S, Yu Y, Chen T, Xu F, Gong Z, Han L. Wang F, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022 Jun 25;51(3):298-305. doi: 10.3724/zdxbyxb-2022-0194. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022. PMID: 36207831 Free PMC article. English.
OBJECTIVE: To investigate the clinical and genetic characteristics of infants with cobalamin (cbl) X type of methylmalonic acidemia (MMA). METHODS: The clinical data of 5 infants with cblX type of MMA diagnosed in Xinhua Hospital Affiliated to Shanghai Jiao Tong Uni …
OBJECTIVE: To investigate the clinical and genetic characteristics of infants with cobalamin (cbl) X type of methylmalonic acidemi …
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.
Raval DB, Merideth M, Sloan JL, Braverman NE, Conway RL, Manoli I, Venditti CP. Raval DB, et al. J Inherit Metab Dis. 2015 Sep;38(5):839-46. doi: 10.1007/s10545-014-9802-8. Epub 2015 Jan 8. J Inherit Metab Dis. 2015. PMID: 25567501 Free PMC article. Review.
METHODS: Pregnancies affected by maternal MMA were ascertained through study 04-HG-0127 "Clinical and Basic Investigations of Methylmalonic Acidemia and Related Disorders" (clinicaltrials.gov identifier: NCT00078078) and via literature review. ...One patient was rep …
METHODS: Pregnancies affected by maternal MMA were ascertained through study 04-HG-0127 "Clinical and Basic Investigations of Methylmalon …
173 results