Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia
Background: Mannose phosphate isomerase deficiency-congenital glycosylation disorders (MPI-CDG) is a rare autosomal recessive disorder caused by pathogenic variants in the MPI gene and characterized by digestive, hepatic, and endocrine-related symptoms. Herein, we reported a case of a 4-month-old ba...
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Elsevier
2024-12-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426924001150 |
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| author | Cheng Luo Danxia Peng Yanyan Li Shuping Liu Qiong Wu Xuan Xu Jie Wen |
| author_facet | Cheng Luo Danxia Peng Yanyan Li Shuping Liu Qiong Wu Xuan Xu Jie Wen |
| author_sort | Cheng Luo |
| collection | DOAJ |
| description | Background: Mannose phosphate isomerase deficiency-congenital glycosylation disorders (MPI-CDG) is a rare autosomal recessive disorder caused by pathogenic variants in the MPI gene and characterized by digestive, hepatic, and endocrine-related symptoms. Herein, we reported a case of a 4-month-old baby with MPI-CDG confirmed by genetic testing. Case summary: Based on the age of the child and the present clinical symptoms (feeding difficulties, intractable diarrhea, vomiting, hepatosplenomegaly, recurrent hypoglycemia, coagulation disorder, and hypoproteinemia under the premise of anti-infection therapy), congenital glycosylation disorder was suspected, which was then confirmed by genetic testing. Her father carried a heterozygous deletion variant of exons 1–2 of the MPI gene, while her mother carried a heterozygous variant of C. 422C > T variant. It was suspected that a biallelic pathogenic variant of the MPI gene caused the CDG. Conclusion: MPI-CDG should be considered in infancy with unexplained hypoglycemia and recurrent digestive and endocrine system involvement. Also, if evident symptoms are present, a gene examination should be performed, as this could speed up the diagnosis assuring timely treatment. |
| format | Article |
| id | doaj-art-26ece55a97ad41ccb04df0792ca5787d |
| institution | Kabale University |
| issn | 2214-4269 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
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| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj-art-26ece55a97ad41ccb04df0792ca5787d2024-12-17T04:59:49ZengElsevierMolecular Genetics and Metabolism Reports2214-42692024-12-0141101162Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemiaCheng Luo0Danxia Peng1Yanyan Li2Shuping Liu3Qiong Wu4Xuan Xu5Jie Wen6Department of Children's Medical Center, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan, ChinaDepartment of Children's Medical Center, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan, ChinaDepartment of Children's Medical Center, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan, ChinaDepartment of Children's Medical Center, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan, ChinaDepartment of Children's Medical Center, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan, ChinaDepartment of Children's Medical Center, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan, China; Corresponding authors.Department of Pediatric Orthopedics, Hunan Provincial People's Hospital, the First Affiliated Hospital of Hunan Normal University, Changsha 410005, China; Corresponding authors.Background: Mannose phosphate isomerase deficiency-congenital glycosylation disorders (MPI-CDG) is a rare autosomal recessive disorder caused by pathogenic variants in the MPI gene and characterized by digestive, hepatic, and endocrine-related symptoms. Herein, we reported a case of a 4-month-old baby with MPI-CDG confirmed by genetic testing. Case summary: Based on the age of the child and the present clinical symptoms (feeding difficulties, intractable diarrhea, vomiting, hepatosplenomegaly, recurrent hypoglycemia, coagulation disorder, and hypoproteinemia under the premise of anti-infection therapy), congenital glycosylation disorder was suspected, which was then confirmed by genetic testing. Her father carried a heterozygous deletion variant of exons 1–2 of the MPI gene, while her mother carried a heterozygous variant of C. 422C > T variant. It was suspected that a biallelic pathogenic variant of the MPI gene caused the CDG. Conclusion: MPI-CDG should be considered in infancy with unexplained hypoglycemia and recurrent digestive and endocrine system involvement. Also, if evident symptoms are present, a gene examination should be performed, as this could speed up the diagnosis assuring timely treatment.http://www.sciencedirect.com/science/article/pii/S2214426924001150Congenital disorders of glycosylationMPI geneHypoglycemiaMild diarrhea |
| spellingShingle | Cheng Luo Danxia Peng Yanyan Li Shuping Liu Qiong Wu Xuan Xu Jie Wen Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia Molecular Genetics and Metabolism Reports Congenital disorders of glycosylation MPI gene Hypoglycemia Mild diarrhea |
| title | Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia |
| title_full | Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia |
| title_fullStr | Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia |
| title_full_unstemmed | Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia |
| title_short | Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia |
| title_sort | mannose phosphate isomerase congenital disorder of glycosylation leads to asymptomatic hypoglycemia |
| topic | Congenital disorders of glycosylation MPI gene Hypoglycemia Mild diarrhea |
| url | http://www.sciencedirect.com/science/article/pii/S2214426924001150 |
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