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Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test.

Lee SH, Hong YH - Korean J Pediatr (2014)

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Gachon University Gil Medical Center, Incheon, Korea.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus

Profile of the urine organic acid analysis of the mother and her infant. (A) The results of the infant's urine organic acid analysis. (B) The results of the mother's urine organic acid analysis.
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Figure 1: Profile of the urine organic acid analysis of the mother and her infant. (A) The results of the infant's urine organic acid analysis. (B) The results of the mother's urine organic acid analysis.

Mentions: We then suspected maternal 3MCC deficiency, and a urine organic acid analysis of the patient's mother was performed. The 3-MCG level was increased (227.98 mmol/mol Cr, control: not detectable) in her urine (Fig. 1). She was diagnosed as having maternal 3MCC deficiency. She was asymptomatic until diagnosed as having 3MCC deficiency. There were no abnormal findings on her physical examination, and she was not lethargic and had no specific symptoms of acute illness according to her past medical history. We did not perform an exact IQ test, but her intellect appeared normal. We recommended further evaluation such as a plasma amino acid analysis, enzyme activity test and genetic study. However, she refused further investigation and gene analysis because she was asymptomatic.


Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test.

Lee SH, Hong YH - Korean J Pediatr (2014)

Profile of the urine organic acid analysis of the mother and her infant. (A) The results of the infant's urine organic acid analysis. (B) The results of the mother's urine organic acid analysis.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4127396&req=5

Figure 1: Profile of the urine organic acid analysis of the mother and her infant. (A) The results of the infant's urine organic acid analysis. (B) The results of the mother's urine organic acid analysis.
Mentions: We then suspected maternal 3MCC deficiency, and a urine organic acid analysis of the patient's mother was performed. The 3-MCG level was increased (227.98 mmol/mol Cr, control: not detectable) in her urine (Fig. 1). She was diagnosed as having maternal 3MCC deficiency. She was asymptomatic until diagnosed as having 3MCC deficiency. There were no abnormal findings on her physical examination, and she was not lethargic and had no specific symptoms of acute illness according to her past medical history. We did not perform an exact IQ test, but her intellect appeared normal. We recommended further evaluation such as a plasma amino acid analysis, enzyme activity test and genetic study. However, she refused further investigation and gene analysis because she was asymptomatic.

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Gachon University Gil Medical Center, Incheon, Korea.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus