• Clinical and Experimental Pediatrics
• /
• 제57권7호
• /
• pp.329-332
• /
• 2014

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 3MCC deficiency was previously considered to be rare, it has been found to be one of the most common metabolic disorders in newborns after the neonatal screening test using tandem mass spectrometry was introduced. Additionally, asymptomatic 3MCC deficient mothers have been identified due to abnormal results of unaffected baby's neonatal screening test. Some of the 3MCC-deficient mothers show symptoms such as fatigue, myopathy, or metabolic crisis with febrile illnesses. In the current study, we identified an asymptomatic 3MCC deficient mother when she showed abnormal results during a neonatal screening test of a healthy infant.

• Clinical and Experimental Pediatrics
• /
• 제59권sup1호
• /
• pp.41-44
• /
• 2016

We report here a case of maternal 3-methylcrotonyl-coenzyme A carboxylase (3-MCC) deficiency in a Korean woman. Her 2 infants had elevated 3-hydroxyisovalerylcarnitine (C5-OH) on a neonatal screening test by liquid chromatography-tandem mass spectrometry (LC-MS/MS), but normal results were found on urine organic acid analysis. The patient was subjected to serial testing and we confirmed a maternal 3-MCC deficiency by blood spot and breast milk spot test by LC-MS/MS, serum amino acid analysis, urine organic acid and molecular genetic analysis that found c.838G>T (p.Asp280Tyr) homozygous mutation within exon 9 of the MCCB gene. Especially, we confirmed marked higher levels of C5-OH on breast milk spot by LC-MS/MS, in the case of maternal 3-MCC deficiency vs. controls.

• 대한유전성대사질환학회지
• /
• 제10권1호
• /
• pp.27-30
• /
• 2010

3-Methylcrotonylglycinuria (3-MCCD)는 상염색체 열성 질환으로 3-methylcrotonyl-CoA carboxylase(3-MCC)의 결핍에 의해 발생한다. 최근 신생아시기에 대사이상질환 선별검사의 도입과 더불어 본 질환의 유병률이 증가하고 있다. 본 질환의 환자 대부분이 무증상이나 일부에서 신경학적 이상이 동반되어 유전상담에 어려움을 겪고 있다. 본 보고에서는 신생아 선별검사를 통하여 발견되어 3-MCCD로 진단되어 4세까지 정상 발달을 보이는 증례를 보고한다. 환자는 MCCC2 유전자에 p.[D280Y]+[D280Y] 돌연변이를 가지고 있다. 향후 국내의 3-MCCD 환자들의 임상양상과 유전학적 특성에 대한 고찰이 필요하다.

• 대한유전성대사질환학회지
• /
• 제4권1호
• /
• pp.46-53
• /
• 2004

3-Methylcrotonyl-CoA carboxylase (MCC) is a biotin-dependent enzyme involved in leucine metabolism. We describe a patient with MCC deficiency who manifested with Reye syndrome-like illness with status epilepticus, metabolic acidosis, hypoglycemia, hyperammonemia, elevated liver enzymes and neurologic impairments after the viral gastroenteritis and then, has suffered from Lennox-Gastaut syndrome. Urinary organic acid analysis revealed increased excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine. This patient was managed with leucine restriction diet and supplementation of biotin and carnitine but was not so effective. He has suffered from neurologic sequelae such as Lennox-Gastaut syndrome, motor and cognitive impairement.