Sedigheh Madani*, Fatemeh Sayarifard, Parisa Tajdini, Reihaneh Mohsenipour, Hamid Reza Khoramkhorshid and Nima Rezaei* Pages 1 - 4 ( 4 )
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. High dose of vitamin B1 was administered, because thiamine is considered as a co-factor in this inborn error of metabolism. She responded very well to daily administration of 500 mg/day vitamin B1 and stood up without help 5 months later. She had experienced seizure, which responded well to pyridoxine. Now, she is 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: Attention to the pathophysiology of inborn errors of metabolism is necessary, while considering the defective enzymes co-factor may help us to find an option for treatment of such rare diseases.
Congenital Disorder of Glycosylation Ia, Phosphomannomutase, PMM2 mutation, 2-ketoglutaric aciduria, Thiamine, Whole Exome Sequencing, Pyridoxine
Diabetes Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Division of Endocrinology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Division of Endocrinology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Fetal Health Research Center, Hope Generation Foundation, Tehran, Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran