Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature [PDF]
BMC PediatricsBackground Methylmalonic acidemia is a rare autosomal recessive disorder of propionate catabolism characterized by the accumulation of propionic acid and methylmalonic acid caused by methylmalonyl-CoA mutase deficiency.
Fumiya Yamashita +9 more
doaj +4 more sources
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia
Cell Reports, 2017 Summary: Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although ...
Charles Venditti +2 more
exaly +4 more sources
Methylmalonic acidemia: Neurodevelopment and neuroimaging
Frontiers in Neuroscience, 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.
Linfeng Yang, Chaofan Sui
exaly +5 more sources
Animal models of methylmalonic acidemia: insights and challenges [PDF]
Orphanet Journal of Rare DiseasesMethylmalonic acidemia (MMA) is a rare genetic disorder caused by disruptions in the metabolism of methylmalonic acid, resulting in severe neurological and systemic complications.
Shan Shan +5 more
doaj +3 more sources
Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China [PDF]
Human GenomicsBackground Isolated methylmalonic acidemia, an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type).
Shiying Ling +18 more
doaj +3 more sources
CLINICAL CASE OF METHYLMALONIC ACIDEMIA [PDF]
Байкальский медицинский журнал, 2023 The paper describes a clinical case of methylmalonic acidemia in a newborn premature baby with a aggravated genealogical and obstetric history. The problems of diagnosing aminoacidopathy as a large heterogeneous group of hereditary diseases, which, as a ...
Elena Anatolyevna Tkachuk +11 more
doaj +2 more sources
Methylmalonic acidemia in prenatal diagnosis
Clinical and Experimental Obstetrics & Gynecology, 2020 Objective: The objective of this study was to report the prenatal diagnosis for methylmalonic acidemia. Materials and Methods: Isolated methylmalonic acidemia was diagnosed by analyzing organic acids in the blood and urine.
B.F. Zhou, C.X. Duan, D.L. Tang
doaj +2 more sources
A novel MMUT splicing variant causing mild methylmalonic acidemia phenotype [PDF]
HeliyonObjectives: Methylmalonic acidemia (MMA) is a rare inborn genetic disorder that is characterized by increased levels of methylmalonic acid in blood plasma and urine.
Xinjie Zhang +9 more
doaj +3 more sources
Methylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment [PDF]
Frontiers in Neurology, 2022 BackgroundThe cblC type methylmalonic acidemia is the most common methylmalonic acidemia (MMA) in China. The biochemical characteristics of this disease include elevated methylmalonic acid and homocysteine (HCY), increased propionylcarnitine (C3 ...
Shuqi Sun +4 more
doaj +2 more sources
Enamel defects and salivary methylmalonate in methylmalonic acidemia [PDF]
Oral Diseases, 2009 Introduction and objective: To characterize enamel defects in patients with methylmalonic acidemia (MMA) and cobalamin (cbl) metabolic disorders and to examine salivary methylmalonate levels in MMA.Subjects and methods: Teeth from patients (n = 32) were evaluated for enamel defects and compared with age‐ and gender‐matched controls (n = 55 ...
C W, Bassim +7 more
openaire +4 more sources