Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia
Journal of Genetic Medicine
;
: 80-85, 2017.
Article
in English
| WPRIM
| ID: wpr-179815
ABSTRACT
Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disorder characterized by an abnormal accumulation of methylmalonyl-CoA and methylmalonate in body fluids without hyperhomocysteinemia. Cardiac disease is a rarely known lethal complication of MMA, herein, we report a Korean neonate diagnosed with MMA on the basis of biochemical and genetic findings, who developed cardiomyopathy, resulting in sudden death. The patient presented vomiting and lethargy at 3 days of age. Initially, the patient had an increased plasma propionylcarnitine/acetylcarnitine concentration ratio of 0.49 in a tandem mass spectrometry analysis and an elevated ammonia level of 537 µmol/L. Urine organic acid analysis showed increased excretion of methylmalonate. Subsequent sequence analysis of the methylmalonyl-CoA mutase (MUT) gene revealed compound heterozygous mutations c.323G>A (p.Arg108His) in exon 1 and c.1033_1034del (p. Leu345Serfs*15) in exon 4, the latter being a novel mutation. In summary, this is the first case of MMA and cardiomyopathy in Korea that was confirmed by genetic analysis to involve a novel MUT mutation.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Plasma
/
Vomiting
/
Body Fluids
/
Exons
/
Frameshift Mutation
/
Sequence Analysis
/
Hyperhomocysteinemia
/
Death, Sudden
/
Lethargy
/
Tandem Mass Spectrometry
Type of study:
Diagnostic study
Limits:
Humans
/
Infant, Newborn
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2017
Type:
Article
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