Results 11 to 20 of about 12,176 (132)

Methylmalonic acidemia: Neurodevelopment and neuroimaging. [PDF]

Front Neurosci, 2023
Methylmalonic acidemia (MMA) is a genetic disease of abnormal organic acid metabolism, which is one of the important factors affecting the survival rate and quality of life of newborns or infants. Early detection and diagnosis are particularly important.
Chen T, Gao Y, Zhang S, Wang Y, Sui C, Yang L.   +5 more
europepmc   +2 more sources

Methylmalonic acidemia triggers lysosomal-autophagy dysfunctions. [PDF]

Cell Biosci
Background Methylmalonic acidemia (MMA) is a rare inborn error of propionate metabolism caused by deficiency of the mitochondrial methylmalonyl-CoA mutase (MUT) enzyme.
Costanzo M, Cevenini A, Kollipara L, Caterino M, Bianco S, Pirozzi F, Scerra G, D'Agostino M, Pavone LM, Sickmann A, Ruoppolo M.   +10 more
europepmc   +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

Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria. [PDF]

Nat Commun
Messenger RNA (mRNA) therapeutics delivered via lipid nanoparticles hold the potential to treat metabolic diseases caused by protein deficiency, including propionic acidemia (PA), methylmalonic acidemia (MMA), and phenylketonuria (PKU).
Baek R, Coughlan K, Jiang L, Liang M, Ci L, Singh H, Zhang H, Kaushal N, Rajlic IL, Van L, Dimen R, Cavedon A, Yin L, Rice L, Frassetto A, Guey L, Finn P, Martini PGV.   +17 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

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

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

Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations. [PDF]

BMC Pediatr
Objective This study investigated the clinical, imaging, and electroencephalogram (EEG) characteristics of methylmalonic acidemia (MMA) with nervous system damage as the primary manifestation.
Yuan Y, Ma Y, Wu Q, Huo L, Liu CF, Liu X.   +5 more
europepmc   +2 more sources

Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China. [PDF]

Hum Genomics
Isolated methylmalonic acidemia, an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type).
Ling S, Wu S, Shuai R, Yu Y, Qiu W, Wei H, Yang C, Xu P, Zou H, Feng J, Niu T, Hu H, Zhang H, Liang L, Wang Y, Chen T, Xu F, Gu X, Han L.   +18 more
europepmc   +2 more sources

Methylmalonic acidemia: A Rare Case Report from Rural India

VIMS Health Science Journal, 2023
Methylmalonic acidemia is an autosomal recessive disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA.
Neha Khadke, Abhijit Shinde, Prof. Dr. Sunil Natha Mhaske, Suresh Waydande   +3 more
openalex   +2 more sources