Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency.
- Author:
Yoon Myung KIM
1
;
Go Hun SEO
;
Gu Hwan KIM
;
Han Wook YOO
;
Beom Hee LEE
Author Information
- Publication Type:Case Report
- Keywords: 3-Methylcrotonyl-CoA carboxylase deficiency; 3-Methylcrotonylglycinuria; MCCC1
- MeSH: Humans; Infant; Infant, Newborn; Korea; Leucine; Mass Screening; Metabolic Diseases; Metabolism; Neonatal Screening; Neurologic Manifestations
- From:Journal of Genetic Medicine 2017;14(1):23-26
- CountryRepublic of Korea
- Language:English
- Abstract: Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes MCCC1 or MCCC2 cause a defect in the enzyme 3-methylcrotonyl-CoA carboxylase, with MCCC2 mutations being the form predominantly reported in Korea. The majority of infants identified by neonatal screening usually appear to be asymptomatic and remain healthy; however, some patients have been reported to exhibit mild to severe metabolic decompensation and neurologic manifestations. Here we report the clinical features of a patient with asymptomatic 3-methylcrotonyl-CoA carboxylase deficiency and novel heterozygous MCCC1 mutations.
