Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening
| Autor: | S. H. Chaing, S. D. Weavil, Priya S. Kishnani, Anne Boney, Dianne M. Frazier, David S. Millington, Wendy E. Smith, E. G. Moore, Joseph Muenzer, Shawn E. McCandless, Marie T. McDonald, Dwight D. Koeberl |
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| Rok vydání: | 2003 |
| Předmět: |
Male
Metabolite Physiology Pilot Projects Urine Tandem mass spectrometry Mass Spectrometry chemistry.chemical_compound Neonatal Screening Carnitine North Carolina Genetics medicine Humans Genetic Testing Lymphocytes Genetics (clinical) Newborn screening Incidence (epidemiology) Lymphoblast Infant Newborn food and beverages 3-Methylcrotonyl-CoA carboxylase deficiency medicine.disease Carbon-Carbon Ligases chemistry Biochemistry Female Acids Metabolism Inborn Errors Urine organic acids |
| Zdroj: | Journal of Inherited Metabolic Disease. 26:25-35 |
| ISSN: | 0141-8955 |
| Popis: | Summary: Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with two consecutive elevated 3-hydroxyisovalerylcarnitine (C5OH) levels have been evaluated for evidence of inborn errors of metabolism associated with this metabolite. Ten of these 20 infants had significant concentrations of both 3-hydroxyisovaleric acid and 3-methylcrotonylglycine in their urine, suggestive of 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency. Four of these 10 were infants whose abnormal metabolites were found to be of maternal origin. Of 8 patients with probable 3-MCC deficiency, 7 have been tested and found to have the enzyme deficiency confirmed in lymphoblasts or cultured fibroblasts; one of these 7 infants had only marginally decreased 3-MCC activity in lymphocytes but deficient 3-MCC in fibroblasts. We estimate the incidence of 3-MCC deficiency at 1:64000 live births in North Carolina. We conclude that MS/MS newborn screening will detect additional inborn errors of metabolism, such as 3-MCC deficiency, not traditionally associated with newborn screening. The evaluation of newborns with two abnormally elevated C5OH levels on MS/MS newborn screening should include, at least, urine organic acid analysis by capillary GC-MS and a plasma acylcarnitine profile by MS/MS. Long-term follow-up is needed to determine the outcome of presymptomatically diagnosed patients with 3-MCC deficiency by MS/MS newborn screening. |
| Databáze: | OpenAIRE |
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