Isolated 3-Methylcrotonyl CoA Carboxylase Deficiency Detected by Newborn Screening Program Using Tandem Mass Spectrometry / 소아과

Isolated deficiency of 3-methylcrotonyl CoA carboxylase is a rare disorder of the catabolic pathway for leucine and many patients have mild symptoms or no symptom. However, the introduction of tandem mass spectrometry in newborn screening has revealed an unexpectedly high incidence of this disorder. We report an asymptomatic premature infant with isolated 3-methylcrotonyl CoA carboxylase deficiency detected by newborn screening program using tandem mass spectrometry. She was born at preterm, 36 weeks of gestation and her birth weight was 1,912 gm. She was delivered by Cesarian section due to maternal preeclampsia and oligohydramnios. An elevation of 3-hydroxyisovalerylcarnitine in a blood sample obtained at Seven days was detected by tandem mass screening. Massively elevated excretion of 3-hydroxyisovalerate and 3-methylcrotonylglycine was detected in the urine collected at 15 days. L-carnitine(100 mg/kg/day) was administrated orally to correct sencondary carnitine deficiency. Carnitine is conjugated with metabolites, to decrease the potential toxic effects. She is asymptomatic to date, and her growth and development are within normal limits.

Growth Patterns of Breast Fed and Formula Fed Infants / 소아과

PURPOSE: The purpose of this study is to compare the growth pattern of breast fed and formula fed infants in the first 1 year of life. METHODS: Anthropometric data (weight, length, head circumference) of at birth, 1, 3, 6, 9 and 12 months were collected by chart review and characteristics of subjects were collected by questionnaires. Among 358 infants, breast fed infants were 161 (84 males, 77 females) and formula fed infants were 90 (42 males, 48 females). Neither group was given solid foods before 4 months. The weight for age, length for age and head circumference for age were calculated. Breast fed infants were separated into 2 groups (breast fed for 4-11 months and breast fed for more than 12 months). RESULTS: Characteristics of infants and mothers were similar in both groups except for maternal age. Mean weight of breast fed group was lower than that of formula fed group at 12 months of age (male: P=0.004, female: P=0.004). However, mean weight of 12 months breast fed group was below formula fed groups weight at 9 and 12 months (P< 0.05). Mean length and head circumference were similar between groups. CONCLUSION: The growth indices of breast fed and formula fed infants are similar at birth, but weight curves of two groups differ in the first 1 year.