3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels form the basis of neonatal screening. 3MCC deficiency symptoms are variable, ranging from neonatal onset with severe neurological abnormality to a normal, asymptomatic phenotype. Although...

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We...

Neonatal mortality rate (NMR) or infant mortality rate (IMR) are the rate of deaths per 1,000 live births at which babies of either less than four weeks or of one year of age die, respectively. The NMR and IMR are commonly accepted as a measure of the general health and wellbeing of a population. Korea's NMR and IMR fell significantly...

Although numerous clinical observational studies have been conducted over a period of over 30 years, the clinical significance of Ureaplasma infection is still under debate. The Ureaplasma speices. is a commensal in the female genital tract and considered to have of low virulence; however, Ureaplasma colonization has been associated with infertility, stillbirth, preterm delivery, histologic chorioamnionitis, and neonatal morbidities, including...