Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry
ObjectiveTo report a case of glycogen storage disease (GSD) type Ia misdiagnosed as multiple acyl-coenzyme a dehydrogenase deficiency (MADD) by mass spectrometry.MethodsA 7 months old boy was admitted to our hospital for elevated transaminase levels lasting more than 1 month. His blood biochemistry...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2022-11-01
|
| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.999596/full |
| _version_ | 1797988680645738496 |
|---|---|
| author | Juan Du Li-Min Dou Yong-Hong Jin Qing-Fen Wen Ya-Fen Lin Jian-She Wang |
| author_facet | Juan Du Li-Min Dou Yong-Hong Jin Qing-Fen Wen Ya-Fen Lin Jian-She Wang |
| author_sort | Juan Du |
| collection | DOAJ |
| description | ObjectiveTo report a case of glycogen storage disease (GSD) type Ia misdiagnosed as multiple acyl-coenzyme a dehydrogenase deficiency (MADD) by mass spectrometry.MethodsA 7 months old boy was admitted to our hospital for elevated transaminase levels lasting more than 1 month. His blood biochemistry showed hypoglycemia, metabolic acidosis, hyperlipidemia, elevated lactate and uric acid, elevated alanine amino transferase (ALT), aspartate amino transaminase (AST) and gamma-glutamyl transferase (GGT). Mass spectrometry analysis of blood and urine showed elevated blood acylcarnitines and dicarboxylic aciduria, indicating multiple acyl-coenzyme A dehydrogenase deficiency. Sanger sequencing of all exons of glucose-6-phosphatase (G6Pase) and electronic transfer flavoprotein dehydrogenase (ETFDH) was performed for the patient and his parents.ResultsCoding and flanking sequences of the G6Pase gene detected two heterozygous single base substitutions in the boy. One variant was in exon 1 (c.209G > A), Which was also detected in the father. Another was in exon 5 (c.648G > T), which was detected in the mother. Coding and flanking sequences of the ETFDH gene revealed no pathogenic/likely pathogenic variants in the boy.ConclusionGSD Ia can manifest elevated blood acyl carnitines and dicarboxylic aciduria which were the typical clinical manifestations of MADD. So the patient with clinical manifestations similar to MADD is in need of differential diagnosis for GSD Ia. Genetic testing is helpful to confirming the diagnosis of inherited metabolic diseases. |
| first_indexed | 2024-04-11T08:06:52Z |
| format | Article |
| id | doaj.art-58e1783a82f44884a0eb89d58adb59bf |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-11T08:06:52Z |
| publishDate | 2022-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-58e1783a82f44884a0eb89d58adb59bf2022-12-22T04:35:29ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602022-11-011010.3389/fped.2022.999596999596Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometryJuan Du0Li-Min Dou1Yong-Hong Jin2Qing-Fen Wen3Ya-Fen Lin4Jian-She Wang5Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai, ChinaThe Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, Shanghai, ChinaDepartment of Pediatrics, Jinshan Hospital of Fudan University, Shanghai, ChinaDepartment of Pediatrics, Jinshan Hospital of Fudan University, Shanghai, ChinaDepartment of Pediatrics, Jinshan Hospital of Fudan University, Shanghai, ChinaThe Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, Shanghai, ChinaObjectiveTo report a case of glycogen storage disease (GSD) type Ia misdiagnosed as multiple acyl-coenzyme a dehydrogenase deficiency (MADD) by mass spectrometry.MethodsA 7 months old boy was admitted to our hospital for elevated transaminase levels lasting more than 1 month. His blood biochemistry showed hypoglycemia, metabolic acidosis, hyperlipidemia, elevated lactate and uric acid, elevated alanine amino transferase (ALT), aspartate amino transaminase (AST) and gamma-glutamyl transferase (GGT). Mass spectrometry analysis of blood and urine showed elevated blood acylcarnitines and dicarboxylic aciduria, indicating multiple acyl-coenzyme A dehydrogenase deficiency. Sanger sequencing of all exons of glucose-6-phosphatase (G6Pase) and electronic transfer flavoprotein dehydrogenase (ETFDH) was performed for the patient and his parents.ResultsCoding and flanking sequences of the G6Pase gene detected two heterozygous single base substitutions in the boy. One variant was in exon 1 (c.209G > A), Which was also detected in the father. Another was in exon 5 (c.648G > T), which was detected in the mother. Coding and flanking sequences of the ETFDH gene revealed no pathogenic/likely pathogenic variants in the boy.ConclusionGSD Ia can manifest elevated blood acyl carnitines and dicarboxylic aciduria which were the typical clinical manifestations of MADD. So the patient with clinical manifestations similar to MADD is in need of differential diagnosis for GSD Ia. Genetic testing is helpful to confirming the diagnosis of inherited metabolic diseases.https://www.frontiersin.org/articles/10.3389/fped.2022.999596/fullglycogen storage disease type Iaglucose-6-Phosphatasemultiple acyl- coenzyme a dehydrogenase deficiencymass spectrometrygene variant |
| spellingShingle | Juan Du Li-Min Dou Yong-Hong Jin Qing-Fen Wen Ya-Fen Lin Jian-She Wang Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry Frontiers in Pediatrics glycogen storage disease type Ia glucose-6-Phosphatase multiple acyl- coenzyme a dehydrogenase deficiency mass spectrometry gene variant |
| title | Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry |
| title_full | Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry |
| title_fullStr | Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry |
| title_full_unstemmed | Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry |
| title_short | Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry |
| title_sort | glycogen storage disease type ia misdiagnosed as multiple acyl coenzyme a dehydrogenase deficiency by mass spectrometry |
| topic | glycogen storage disease type Ia glucose-6-Phosphatase multiple acyl- coenzyme a dehydrogenase deficiency mass spectrometry gene variant |
| url | https://www.frontiersin.org/articles/10.3389/fped.2022.999596/full |
| work_keys_str_mv | AT juandu glycogenstoragediseasetypeiamisdiagnosedasmultipleacylcoenzymeadehydrogenasedeficiencybymassspectrometry AT limindou glycogenstoragediseasetypeiamisdiagnosedasmultipleacylcoenzymeadehydrogenasedeficiencybymassspectrometry AT yonghongjin glycogenstoragediseasetypeiamisdiagnosedasmultipleacylcoenzymeadehydrogenasedeficiencybymassspectrometry AT qingfenwen glycogenstoragediseasetypeiamisdiagnosedasmultipleacylcoenzymeadehydrogenasedeficiencybymassspectrometry AT yafenlin glycogenstoragediseasetypeiamisdiagnosedasmultipleacylcoenzymeadehydrogenasedeficiencybymassspectrometry AT jianshewang glycogenstoragediseasetypeiamisdiagnosedasmultipleacylcoenzymeadehydrogenasedeficiencybymassspectrometry |