Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening
| Autor: | Roberto Cerone, Kristina Cusmano-Ozog, Brendan C. Lanpher, Julie Neidich, Annet M. Bosch, Brett H. Graham, Mark H. Lipson, Natalie N. Owen, Georgianne L. Arnold, Pim Suwannarat, Antal Dezsofi, Paul A. Levy, Uta Lichter-Konecki, Lee-Jun C. Wong, Greg Enns, Denise Salazar, Erica L. Wright |
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| Přispěvatelé: | Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases |
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Male
medicine.medical_specialty Down syndrome Adolescent Endocrinology Diabetes and Metabolism Physiology Hypoglycemia Biochemistry Neonatal Screening Endocrinology Internal medicine Genetics Humans Medicine Child Urea Cycle Disorders Inborn Molecular Biology Newborn screening business.industry Infant Newborn Infant 3-Methylcrotonyl-CoA carboxylase deficiency medicine.disease Poor Feeding Carbon-Carbon Ligases Inborn error of metabolism Child Preschool Organic acidemia Failure to thrive Female medicine.symptom business |
| Zdroj: | Molecular genetics and metabolism, 106(4), 439-441. Academic Press Inc. |
| ISSN: | 1096-7192 |
| Popis: | Introduction: 3-Methyl CoA carboxylase (3-MCC) deficiency is an inborn error of metabolism in the catabolism of the amino acid leucine. Original reports suggested this disorder was associated with significant neurological and biochemical effects. However newborn screening has identified a higher than expected incidence of this disorder with apparent normal outcome in most cases. Method: A retrospective analysis of thirty-five cases of 3-MCC deficiency identified by newborn screening and diagnosed by enzyme or molecular analysis. Results: There was a strong inverse correlation between initial C5OH level and residual enzyme activity. A few reports of hypoglycemia, ketosis, poor feeding/failure to thrive or fasting intolerance were reported, but there was no clear relationship between symptoms and residual enzyme activity. Developmental outcome included several children with mental retardation (including one with Down syndrome and one with schizencephaly) and two with Autism Spectrum disorders but there was no apparent relationship to residual enzyme activity. Free carnitine deficiency was relatively common. Discussion: Although residual enzyme activity was clearly related to metabolite elevation, there was no apparent relationship with other measures of outcome. The number of reports of neurologic abnormalities or metabolic symptoms (poor feeding, hypoglycemia, fasting intolerance, etc.) is concerning, but the significance is unclear in this retrospective sample. (C) 2012 Elsevier Inc. All rights reserved |
| Databáze: | OpenAIRE |
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