Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt
Classic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia is not included in Egyptian neonatal screening program. The study aimed to define clinical presentation and compli...
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doaj-54ed766f74b343e1aaaff8d98f8c036a2020-11-25T00:29:51ZengElsevierJournal of Advanced Research2090-12322018-07-01123945Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in EgyptMagd A. Kotb0Lobna Mansour1Christine William Shaker Basanti2Wael El Garf3Ghada I.Z. Ali4Sally T. Mostafa El Sorogy5Inas E.M. Kamel6Naglaa M Kamal7Department of Pediatrics, Pediatric Hepatology Unit, Faculty of Medicine, Cairo University, Egypt; Corresponding author.Department of Pediatrics, Pediatric Neurology Unit, Faculty of Medicine, Cairo University, EgyptDepartment of Pediatrics, Pediatric Pulmonology Unit, Faculty of Medicine, Cairo University, EgyptPediatric Medicine Department, National Research Center, Cairo, EgyptDepartment of Pediatrics, Maady Military Hospital, Cairo, EgyptDepartment of Pediatrics, Public Mounira Hospital, Cairo, EgyptPediatric Medicine Department, National Research Center, Cairo, EgyptDepartment of Pediatrics, Pediatric Hepatology Unit, Faculty of Medicine, Cairo University, EgyptClassic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia is not included in Egyptian neonatal screening program. The study aimed to define clinical presentation and complications of galactosemia at Pediatric Hepatology Clinic, Cairo University, Egypt. Thus, the clinical presentation, course and outcome of 37 children with documented galactosemia was studied. Jaundice was the main presentation (67.6%). Other presentations included; convulsions (29.7%), motor retardation (24.3%), mental retardation (5.4%), microcephaly (5.4%), failure to thrive (16.2%), hepatomegaly (62.2%), splenomegaly (35.1%), vomiting (16.2%), diarrhea (8.1%), liver cell failure (10.8%), renal tubular acidosis (5.4%), cataract (5.4%), autoimmune hepatitis (2.7%), self-mutilation (2.7%), combined immune deficiency (2.7%) and kernicterus (2.7%). There was no correlation of residual enzyme activity to severity, clinical presentation, liver function tests, liver biopsy findings or outcome apart from highly significant correlation with repeated chest infections (P = 0.001). Duration to diagnosis and exposure to galactose in diet correlated with liver pathology severity i.e. hepatocyte necrosis (P = 0.003) and cytoskeleton damage (P = 0.003), but not to outcome. Galactosemia should be suspected in any child with liver, neurologic disease and/or immunodeficiency. Its complications are potentially preventable. Early detection is mandatory to prevent serious morbidity and mortality. Initiation of neonatal screening for galactosemia in Egypt is recommended. Keywords: Classic galactosemia, Galactose-1-phosphate uridylyltransferase GALT, Convulsions motor retardation mental retardation, Kernicterus microcephaly, Liver cell failure autoimmune hepatitis, Cataract self-mutilation combined immune deficiencyhttp://www.sciencedirect.com/science/article/pii/S2090123218300213 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Magd A. Kotb Lobna Mansour Christine William Shaker Basanti Wael El Garf Ghada I.Z. Ali Sally T. Mostafa El Sorogy Inas E.M. Kamel Naglaa M Kamal |
spellingShingle |
Magd A. Kotb Lobna Mansour Christine William Shaker Basanti Wael El Garf Ghada I.Z. Ali Sally T. Mostafa El Sorogy Inas E.M. Kamel Naglaa M Kamal Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt Journal of Advanced Research |
author_facet |
Magd A. Kotb Lobna Mansour Christine William Shaker Basanti Wael El Garf Ghada I.Z. Ali Sally T. Mostafa El Sorogy Inas E.M. Kamel Naglaa M Kamal |
author_sort |
Magd A. Kotb |
title |
Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt |
title_short |
Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt |
title_full |
Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt |
title_fullStr |
Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt |
title_full_unstemmed |
Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt |
title_sort |
pilot study of classic galactosemia: neurodevelopmental impact and other complications urge neonatal screening in egypt |
publisher |
Elsevier |
series |
Journal of Advanced Research |
issn |
2090-1232 |
publishDate |
2018-07-01 |
description |
Classic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia is not included in Egyptian neonatal screening program. The study aimed to define clinical presentation and complications of galactosemia at Pediatric Hepatology Clinic, Cairo University, Egypt. Thus, the clinical presentation, course and outcome of 37 children with documented galactosemia was studied. Jaundice was the main presentation (67.6%). Other presentations included; convulsions (29.7%), motor retardation (24.3%), mental retardation (5.4%), microcephaly (5.4%), failure to thrive (16.2%), hepatomegaly (62.2%), splenomegaly (35.1%), vomiting (16.2%), diarrhea (8.1%), liver cell failure (10.8%), renal tubular acidosis (5.4%), cataract (5.4%), autoimmune hepatitis (2.7%), self-mutilation (2.7%), combined immune deficiency (2.7%) and kernicterus (2.7%). There was no correlation of residual enzyme activity to severity, clinical presentation, liver function tests, liver biopsy findings or outcome apart from highly significant correlation with repeated chest infections (P = 0.001). Duration to diagnosis and exposure to galactose in diet correlated with liver pathology severity i.e. hepatocyte necrosis (P = 0.003) and cytoskeleton damage (P = 0.003), but not to outcome. Galactosemia should be suspected in any child with liver, neurologic disease and/or immunodeficiency. Its complications are potentially preventable. Early detection is mandatory to prevent serious morbidity and mortality. Initiation of neonatal screening for galactosemia in Egypt is recommended. Keywords: Classic galactosemia, Galactose-1-phosphate uridylyltransferase GALT, Convulsions motor retardation mental retardation, Kernicterus microcephaly, Liver cell failure autoimmune hepatitis, Cataract self-mutilation combined immune deficiency |
url |
http://www.sciencedirect.com/science/article/pii/S2090123218300213 |
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