Congenital disorder of glycosylation type Ia presenting with hydrops fetalis
| Autor: | Stefan M. Willems, J.M. van de Kamp, Gert Matthijs, Ben J. H. M. Poorthuis, Dirk J. Lefeber, Ron A. Wevers, N S den Hollander, Sylke J. Steggerda, George J. G. Ruijter |
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| Přispěvatelé: | Clinical Genetics, Obstetrics & Gynecology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Guided Treatment in Optimal Selected Cancer Patients (GUTS) |
| Jazyk: | angličtina |
| Rok vydání: | 2006 |
| Předmět: |
Male
Pediatrics Glycosylation Hypoalbuminemia/congenital Neuroinformatics [DCN 3] Pericardial Effusion/congenital Fatal Outcome Abnormalities Multiple/genetics Perception and Action [DCN 1] Missense mutation Prenatal Hypoalbuminemia Frameshift Mutation Hydrops Fetalis/diagnostic imaging Genetics (clinical) Heart Defects Ultrasonography Congenital/genetics Heart Defects Congenital/genetics Thrombocytopenia/congenital medicine.anatomical_structure Codon Nonsense Multiple/genetics Transferrin/analysis Chorionic villi Female Abnormalities medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Post-Translational/genetics Energy and redox metabolism [NCMLS 4] Protein Processing Post-Translational/genetics Mutation Missense Glycoproteins/metabolism Biology Ultrasonography Prenatal Frameshift mutation Hydrops fetalis Insertional Phosphotransferases (Phosphomutases)/deficiency Genetics medicine Humans Codon Protein Processing Ferritins/blood Infant Newborn Infant Glycostation disorders [IGMD 4] medicine.disease Newborn Neuromuscular development and genetic disorders [UMCN 3.1] Mutagenesis Insertional Nonsense Genetic defects of metabolism [UMCN 5.1] Mutagenesis Immunology Mutation Differential diagnosis Isoelectric Focusing Missense Congenital disorder of glycosylation Phosphomannomutase Letter to JMG |
| Zdroj: | Journal of Medical Genetics, 44(4), 277-280. BMJ Publishing Group Journal of Medical Genetics, 44, 4, pp. 277-80 Journal of medical genetics, 44(4), 277-280. BMJ Publishing Group JOURNAL OF MEDICAL GENETICS, 44(4), 277-280. BMJ PUBLISHING GROUP Journal of Medical Genetics, 44, 277-80 |
| ISSN: | 0022-2593 |
| Popis: | Contains fulltext : 53596.pdf (Publisher’s version ) (Closed access) There is a growing awareness that inborn errors of metabolism can be a cause of non-immune hydrops fetalis. The association between congenital disorders of glycosylation (CDG) and hydrops fetalis has been based on one case report concerning two sibs with hydrops fetalis and CDG-Ik. Since then two patients with hydrops-like features and CDG-Ia have been reported. Two more unrelated patients with CDG-Ia who presented with hydrops fetalis are reported here, providing definite evidence that non-immune hydrops fetalis can be caused by CDG-Ia. The presence of congenital thrombocytopenia and high ferritin levels in both patients was remarkable. These might be common features in this severe form of CDG. Both patients had one severe mutation in the phosphomannomutase 2 gene, probably fully inactivating the enzyme, and one milder mutation with residual activity, as had the patients reported in literature. The presence of one severe mutation might be required for the development of hydrops fetalis. CDG-Ia should be considered in the differential diagnosis of hydrops fetalis and analysis of PMM activity in chorionic villi or amniocytes should also be considered. |
| Databáze: | OpenAIRE |
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