Results 21 to 30 of about 12,610 (204)

A case report of combined methylmalonic acidemia and homocysteinemia presented with cerebral sinus thrombosis and fluctuating cognitive impairment. [PDF]

Medicine (Baltimore)
Rationale: MMACHC deficiency leads to combined methylmalonic acidemia and homocysteinemia. The disease is characterized by the presence of methylmalonic acidemia and hyperhomocysteinemia, leading to widespread clinical manifestations affecting multiple ...
Wang J, Liu L, Wang H.
europepmc   +2 more sources

Case Report: A Case of Late-Onset Combined Methylmalonic Acidemia and Hyperhomocysteinemia Induced by a Vegetarian Diet [PDF]

Frontiers in Pediatrics, 2022
Methylmalonic acidemia is a rare autosomal recessive metabolic disease. However, because of the atypical clinical symptoms, the type of late-onset methylmalonic academia is often misdiagnosed.
Bei Xu, Lihong Zhang, Qiang Chen, Yajuan Wang, Yahong Peng, Hui Tang   +5 more
doaj   +2 more sources

Persistent pulmonary hypertension of the newborn due to methylmalonic acidemia: a case report and review of the literature [PDF]

Journal of Medical Case Reports, 2023
Background Persistent pulmonary hypertension of the newborn manifesting with refractory and severe cyanosis is the consequence of high pulmonary vascular resistance causing extrapulmonary right-to-left shunt.
Fariba Hemmati, Hamide Barzegar
doaj   +2 more sources

Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes. [PDF]

Pediatr Res
Methylmalonic acidemia (MMA) is the most common organic acidemia in China, with cblC (cblC-MMA) and mut (mut-MMA) being the predominant subtypes. The present study aimed to investigate the prognostic manifestations and their possible influence in ...
Hao L, Ling S, Ding S, Qiu W, Zhang H, Zhang K, Chen T, Gu X, Liang L, Han L.   +9 more
europepmc   +2 more sources

Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review. [PDF]

Orphanet J Rare Dis
Introduction Combined 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.
Arhip L, Brox-Torrecilla N, Romero I, Motilla M, Serrano-Moreno C, Miguélez M, Cuerda C.   +6 more
europepmc   +2 more sources

Associations between elevated uric acid and brain imaging abnormalities in pediatric patients with methylmalonic acidemia under 5 years of age. [PDF]

Sci Rep
Methylmalonic acidemia (MMA) is the most common inborn organic acidemia, presenting multisystemic complications. Uric acid may have neurotoxic or neuroprotective effects due to its antioxidant or pro-inflammatory properties; however, its role in MMA ...
Du M, Wu S, Chen Y, Yuan S, Dong S, Wang H, Wei H, Zhu C.   +7 more
europepmc   +2 more sources

Fatal Case Report of Methylmalonic Acidemia: Reflections on Organic Acidemias in Colombia [PDF]

Journal of Inborn Errors of Metabolism and Screening
Methylmalonic acidemia (MMA) is a rare hereditary metabolic disorder caused by defects in the methylmalonyl-CoA mutase pathway, leading to toxic metabolite accumulation and severe multi-organ complications.
Ana María Zarante Bahamon, Juan Sebastián Rincón Redondo, Sandra Navarro Marroquin, Dairo Jesús Cera Cabarcas, Juan Carlos Prieto Rivera   +4 more
semanticscholar   +2 more sources

From Pancytopenia to Hyperleukocytosis, an Unexpected Presentation of Immune Reconstitution Inflammatory Syndrome in an Infant with Methylmalonic Acidemia. [PDF]

Children (Basel)
A 2.5-month-old girl admitted for failure to thrive and severe pancytopenia was diagnosed with methylmalonic acidemia (MMA) secondary to transcobalamin II deficiency, an inborn error of vitamin B12 metabolism.
Sassine S, Remy A, Demaret T, Proulx F, Autmizguine J, Kakkar F, Tran TH, Laverdière C, Cunan ET, Maftei C, Mitchell G, Decaluwe H, Hindié J.   +12 more
europepmc   +2 more sources

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation. [PDF]

JCI Insight
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
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.   +26 more
europepmc   +2 more sources

Successful adult domino living donor liver transplantation in methylmalonic acidemia: case report. [PDF]

Transl Gastroenterol Hepatol
Background Liver transplantation (LT) is a therapeutic option in multiple inherited metabolic diseases (IMDs), including methylmalonic acidemia (MMA), as LT reduces the risk of acute metabolic decompensations and long-term complications associated with ...
Chorley AJ, Terkivatan T, de Jonge J, Polak WG, Tran KTC, Unkhoff C, den Hoed CM, Wagenmakers MAEM, Ijzermans JNM, Minnee RC, Boehnert MU.   +10 more
europepmc   +2 more sources