Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria
| Autor: | S. Scheibenreiter, Adolf Muehl, M.W. Strobl, Johannes Häberle, Dorothea Moeslinger, M. Herle, Katharina Engel, Sylvia Stockler-Ipsiroglu, Saadet Mercimek-Mahmutoglu |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Adolescent Arginine Endocrinology Diabetes and Metabolism Argininosuccinic Aciduria Late onset Biochemistry Gastroenterology 03 medical and health sciences Neonatal Screening 0302 clinical medicine Endocrinology Internal medicine Genetics medicine Humans Child Molecular Biology 030304 developmental biology 0303 health sciences Newborn screening business.industry Infant Newborn Electroencephalography Hyperammonemia medicine.disease Argininosuccinate lyase 3. Good health Treatment Outcome Argininosuccinic aciduria Austria Child Preschool Citrulline Abnormal Liver Function Test Female Steatosis business 030217 neurology & neurosurgery Follow-Up Studies |
| Zdroj: | Molecular Genetics and Metabolism |
| DOI: | 10.1016/j.ymgme.2010.01.013 |
| Popis: | Twenty three patients with late onset argininosuccinate lyase deficiency (ASLD) were identified during a 27 year period of newborn screening in Austria (1:95600 95 CI = 1:68036 1:162531). One additional patient was identified outside the newborn screening with neonatal hyperammonemia. Long term outcome data were available in 17 patients (median age 13 years) ascertained by newborn screening. Patients were treated with protein restricted diet and oral arginine supplementation during infancy and childhood. IQ was average/above average in 11 (65) low average in 5 (29) and in the mild intellectual disability range in 1 (6) patients. Four patients had an abnormal EEG without evidence of clinical seizures and three had abnormal liver function tests and/or evidence of hepatic steatosis. Plasma citrulline levels were elevated in four patients. Plasma ammonia levels were within normal range prior and after a protein load in all patients. Seven different mutations were identified in the 16 alleles investigated. Four mutations were novel (p.E189G p.R168C p.R126P and p.D423H). All mutations were associated with low argininosuccinate lyase activities (0 15) in red blood cells. Newborn screening might be beneficial in the prevention of chronic neurologic and intellectual sequelae in late onset ASLD but a proportion of benign variants might have contributed to the overall favorable outcome as well. © 2010 Elsevier Inc. All rights reserved. |
| Databáze: | OpenAIRE |
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