Open AccessIdentification of a Novel Mutation in the MMAA Gene in a Chinese Boy with Isolated Methylmalonic Acidemia
Author(s) -
Dongling Tang,
G Chen,
S Liu
Publication year - 2020
Publication title -
acta endocrinologica (bucharest)
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.249
H-Index - 13
eISSN - 1843-066X
pISSN - 1841-0987
DOI - 10.4183/aeb.2020.242
Subject(s) - methylmalonic acidemia , methylmalonic acid , methylmalonic aciduria , genetics , biology , gene mutation , mutation , gene , biochemistry , endocrinology , homocysteine
Isolated methylmalonic acidemia refers to a group of inborn errors of metabolism characterized by elevated methylmalonic acid concentrations in the blood and urine. It occurs in approximately one to three out of every 100 thousand Chinese newborns. Mutations in the MMAA gene cause isolated methylmalonic acidemia.
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