Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.
Adult
Alkyl and Aryl Transferases
/ genetics
Amino Acid Metabolism, Inborn Errors
/ enzymology
Carrier Proteins
/ genetics
Child
Child, Preschool
DNA Mutational Analysis
/ methods
Female
Gas Chromatography-Mass Spectrometry
/ methods
Genotype
Humans
Infant
Infant, Newborn
Iran
Male
Methylmalonyl-CoA Mutase
/ genetics
Mitochondrial Membrane Transport Proteins
/ genetics
Mutation
/ genetics
Oxidoreductases
Biochemical analysis
Iranian population
MMAA
MMAB
MMACHC
MUT
Methylmalonic acidemia
Mutation analysis
Novel mutation
Journal
Molecular biology reports
ISSN: 1573-4978
Titre abrégé: Mol Biol Rep
Pays: Netherlands
ID NLM: 0403234
Informations de publication
Date de publication:
Feb 2019
Feb 2019
Historique:
received:
28
03
2018
accepted:
02
11
2018
pubmed:
4
2
2019
medline:
2
7
2019
entrez:
4
2
2019
Statut:
ppublish
Résumé
Methylmalonic acidemia (MMA), an inherited metabolic disease, results from genetic defects in methylmalonyl-CoA mutase or any of the proteins involved in adenosylcobalamin synthesis. This enzyme is classified into several complementation groups and genotypic classes. In this work we explain the biochemical, structural and genetic analysis of 25 MMA patients, from Iran. The diagnosis was established by the measurement of propionylcarnitine in blood using tandem mass spectrometry and confirmed using a gas chromatography-flame ionization detector. Using clinical, biochemical, structural and molecular analyses we identified 15 mut MMA, three cblA, one cblB, and four cblC-deficient patients. Among mutations identified in the MUT gene (MUT) only one, the c.1874A>C (p.D625A) variant, is likely a mut
Identifiants
pubmed: 30712249
doi: 10.1007/s11033-018-4469-0
pii: 10.1007/s11033-018-4469-0
doi:
Substances chimiques
Carrier Proteins
0
MMAA protein, human
0
Mitochondrial Membrane Transport Proteins
0
MMACHC protein, human
EC 1.-
Oxidoreductases
EC 1.-
Alkyl and Aryl Transferases
EC 2.5.-
MMAB protein, human
EC 2.5.1.17
Methylmalonyl-CoA Mutase
EC 5.4.99.2
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
271-285Références
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