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Novel Treatment for Congenital Disorder of Glycosylation in a Patient With Novel Homozygote Mutation of Pmm2: A Case Report and Review Literature Publisher Pubmed



Madani S1 ; Sayarifard F2, 3 ; Tajdini P3 ; Mohsenipour R3 ; Khorshid HRK4 ; Rezaei N5, 6, 7
Authors
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Authors Affiliations
  1. 1. Diabetes Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Division of Endocrinology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran
  5. 5. Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  7. 7. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran

Source: Endocrine# Metabolic and Immune Disorders - Drug Targets Published:2021


Abstract

Background: In Congenital Disorder of Glycosylation (CDG) type Ia, homozygous mutations of the PMM2 gene cause phosphomannomutase 2 dysfunction. Case Presentation: Herein, a 10-month-old girl, is presented with severe hypotonia, along with inappropriately normal mental status and normal facies. High 2-ketoglutaric acid was detected in her urine, therefore, the diagnosis of 2-Ketoglutarate dehydrogenase complex (KDHC) deficiency was made for this patient. A high dose of vitamin B1 was administered because thiamine is considered a co-factor in this inborn error of metabolism. She responded very well to the daily administration of 500 mg/day vitamin B1 and stood up without help 5 months later. She had also experienced a seizure, which responded well to pyridoxine. Then, she grew up into a 3.5-years-old child who could talk and walk normally. Recently, whole-exome sequencing was performed for her, which showed homozygote mutation of PMM2, therefore, the diagnosis was changed from KDHC deficiency to PMM2-CDG. Conclusion: Paying attention to the pathophysiology of inborn errors of metabolism is necessary while considering the defective enzyme co-factor, which may help us to find an option for the treatment of such rare diseases. © 2021 Bentham Science Publishers.