A simple, rapid test for the differential diagnosis of glycogen storage disease type 3
| Autor: | Ali N. Al Odaib, Jalaluddin Bhuiyan, Pinar T. Ozand |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Adolescent Clinical Biochemistry Hepatosplenomegaly Cardiomyopathy Glycogen storage disease type III Biochemistry Gastroenterology Diagnosis Differential Glycogen Storage Disease Type III Internal medicine medicine Glycogen storage disease Humans Aspartate Aminotransferases Myopathy Child Creatine Kinase biology business.industry Biochemistry (medical) Alanine Transaminase General Medicine medicine.disease Alanine transaminase Liver Inborn error of metabolism Child Preschool biology.protein Female medicine.symptom Differential diagnosis business Cardiomyopathies |
| Zdroj: | Clinica chimica acta; international journal of clinical chemistry. 335(1-2) |
| ISSN: | 0009-8981 |
| Popis: | Background : Type 3 glycogen storage disease is an inborn error of metabolism in young infants that often requires extensive workup. However, this disease manifests with few symptoms other than hepatosplenomegaly. At adolescence, this disease may cause myopathy and cardiomyopathy. Since a significant portion of referrals to pediatrics is for evaluation of a hepatosplenomegaly, the differential diagnosis of this disease assumes importance. Methods : The clinical and biochemical findings in 26 patients with the type 3 glycogen storage disease were investigated. Biochemical parameters included ALT, AST, total CK and CK-MB. Results : Changes in ALT, AST and total CK were observed to varying degrees. However, CK was found to be a diagnostic indicator for type 3 glycogen storage disease and appears to be a pathognomic marker. Conclusions : Use of CK may reduce the need for extensive diagnostic profiles and aid in the rapid identification and initiation of management for patients presenting with hepatosplenomegaly. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect