Two siblings with galactose mutarotase deficiency: Clinical differences
| العنوان: | Two siblings with galactose mutarotase deficiency: Clinical differences |
|---|---|
| المؤلفون: | Yasemin Atik Altınok, Ebru Canda, Havva Yazıcı, Sema Kalkan Uçar, Mahmut Çoker |
| المصدر: | JIMD Reports JIMD Reports, Vol 63, Iss 1, Pp 25-28 (2022) |
| بيانات النشر: | John Wiley & Sons, Inc., 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Sanger sequencing, genetic association, Endocrinology, Diabetes and Metabolism, consanguineous marriage, Case Report, genetic analysis, Case Reports, QH426-470, physical examination, blood level, preschool child, whole exome sequencing, galactokinase, Leloir pathway, aspartate aminotransferase, differential diagnosis, gene mutation, bilirubin blood level, child, clinical article, education.field_of_study, Chemistry, genetic screening, unclassified drug, enzyme activity, female, Biochemistry, cataract, head circumference, eye examination, galactose 1 phosphate uridylyltransferase, enzyme deficiency, Galactose mutarotase, galactose mutarotase, hypermetropia, alanine aminotransferase, galactose, gene frequency, Biochemistry, Genetics and Molecular Biology (miscellaneous), Diseases of the endocrine glands. Clinical endocrinology, Article, male, Genetics, Internal Medicine, GALM, liver function test, human, education, glucose urine level, uridine diphosphate glucose 4 epimerase, birth weight, RC648-665, enzyme, blood cell count, homozygosity |
| الوصف: | Galactose mutarotase (GALM) deficiency is an inherited metabolic disease caused by the deficiency of the first enzyme in the Leloir pathway. GALM deficiency was first reported in 2018. To date, eight cases have been reported. We are presenting two siblings with GALM deficiency; one patient presented with cataracts and her brother was asymptomatic. We evaluated the first case due to a cataract at 3 months old. She had elevated galactose and galactose-1-phosphate and normal galactose-1-phosphate uridylyltransferase (GALT) activity. Genetic analysis and other laboratory and clinical findings excluded galactokinase-1 (GALK1) and UDP-galactose 4?-epimerase (GALE) deficiencies. She had a homozygous mutation p. Gly277Arg (c.829G>A) in the GALM (NM_138801) gene. She was 3 years old at the last visit, and her physical examination was normal, except for cataracts. The same mutation was found to be homozygous in the patient's asymptomatic sibling during family screening. He had normal blood galactose and galactose-1-phosphate. This study highlights the importance of evaluating the whole galactose metabolism in terms of GALM deficiency in patients with cataracts. © 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. |
| اللغة: | English |
| تدمد: | 2192-8312 2192-8304 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec443352d6f7d362fa4310df5fd3fcecTest http://europepmc.org/articles/PMC8743342Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....ec443352d6f7d362fa4310df5fd3fcec |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 21928312 21928304 |
|---|