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Two cases of glutaric aciduria type II: how to differentiate from inflammatory myopathies?
Acta Clin Belg. 2019 Dec; 74(6):451-455.AC

Abstract

Muscle weakness is a nonspecific finding of myopathy of any etiology that include iatrogenic, toxic, endocrinological, infectious, immunologic, and metabolic disorders. Among the metabolic myopathies glutaric aciduria type II (GAII) is an autosomal recessively inherited rare disorder of fatty acid and amino acid metabolisms. The late onset form is heterogeneous in terms of symptomatology and severity and for the cases that chronic manifestations of lipid storage myopathy are the only clues for the disease, differential diagnosis can be challenging. Here we report two cases of GAII: the first one was 18-year old boy who presented with proximal muscle weakness and in another center, he was diagnosed as polymyositis and treated with immunosuppressive therapies. He admitted to our clinic with ongoing muscle weakness and symptoms that were related to the side effects of immunosuppressive therapies. The second case was also presented with muscle weakness. For both cases, muscle biopsies and urinary organic acid analyses were consistent with the diagnosis of GAII. To differentiate inflammatory myositis from non-inflammatory myopathies; rheumatic symptoms, accompanying complaints of the patient and autoantibody positivity can be helpful. To our knowledge this is the first report to underline the differential diagnosis of inflammatory myopathies from metabolic myopathies.

Authors+Show Affiliations

Faculty of Medicine, Department of Internal Medicine, Hacettepe University , Ankara , Turkey.Faculty of Medicine, Department of Rheumatology, Hacettepe University , Ankara , Turkey.Faculty of Medicine, Department of Rheumatology, Hacettepe University , Ankara , Turkey.Faculty of Medicine, Department of Rheumatology, Hacettepe University , Ankara , Turkey.Department of Rheumatology, Saglik Bilimleri Universitesi, Van Egitim ve Arastirma Hastanesi , Van , Turkey.Faculty of Medicine, Department of Neurology, Hacettepe University , Ankara , Turkey.Faculty of Medicine, Department of Rheumatology, Hacettepe University , Ankara , Turkey.Faculty of Medicine, Department of Rheumatology, Hacettepe University , Ankara , Turkey.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

30451603

Citation

Koca, Meltem, et al. "Two Cases of Glutaric Aciduria Type II: How to Differentiate From Inflammatory Myopathies?" Acta Clinica Belgica, vol. 74, no. 6, 2019, pp. 451-455.
Koca M, Erden A, Armagan B, et al. Two cases of glutaric aciduria type II: how to differentiate from inflammatory myopathies? Acta Clin Belg. 2019;74(6):451-455.
Koca, M., Erden, A., Armagan, B., Sari, A., Yildiz, F., Ozdamar, S., Kalyoncu, U., & Karadag, O. (2019). Two cases of glutaric aciduria type II: how to differentiate from inflammatory myopathies? Acta Clinica Belgica, 74(6), 451-455. https://doi.org/10.1080/17843286.2018.1547244
Koca M, et al. Two Cases of Glutaric Aciduria Type II: How to Differentiate From Inflammatory Myopathies. Acta Clin Belg. 2019;74(6):451-455. PubMed PMID: 30451603.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two cases of glutaric aciduria type II: how to differentiate from inflammatory myopathies? AU - Koca,Meltem, AU - Erden,Abdulsamet, AU - Armagan,Berkan, AU - Sari,Alper, AU - Yildiz,Fatih, AU - Ozdamar,Sevim, AU - Kalyoncu,Umut, AU - Karadag,Omer, Y1 - 2018/11/19/ PY - 2018/11/20/pubmed PY - 2020/3/27/medline PY - 2018/11/20/entrez KW - Myositis KW - glutaric acidemia type II KW - lipid storage myopathy KW - metabolic KW - multiple acyl-coenzyme A deficiency SP - 451 EP - 455 JF - Acta clinica Belgica JO - Acta Clin Belg VL - 74 IS - 6 N2 - Muscle weakness is a nonspecific finding of myopathy of any etiology that include iatrogenic, toxic, endocrinological, infectious, immunologic, and metabolic disorders. Among the metabolic myopathies glutaric aciduria type II (GAII) is an autosomal recessively inherited rare disorder of fatty acid and amino acid metabolisms. The late onset form is heterogeneous in terms of symptomatology and severity and for the cases that chronic manifestations of lipid storage myopathy are the only clues for the disease, differential diagnosis can be challenging. Here we report two cases of GAII: the first one was 18-year old boy who presented with proximal muscle weakness and in another center, he was diagnosed as polymyositis and treated with immunosuppressive therapies. He admitted to our clinic with ongoing muscle weakness and symptoms that were related to the side effects of immunosuppressive therapies. The second case was also presented with muscle weakness. For both cases, muscle biopsies and urinary organic acid analyses were consistent with the diagnosis of GAII. To differentiate inflammatory myositis from non-inflammatory myopathies; rheumatic symptoms, accompanying complaints of the patient and autoantibody positivity can be helpful. To our knowledge this is the first report to underline the differential diagnosis of inflammatory myopathies from metabolic myopathies. SN - 2295-3337 UR - https://www.unboundmedicine.com/medline/citation/30451603/Two_cases_of_glutaric_aciduria_type_II:_how_to_differentiate_from_inflammatory_myopathies L2 - http://www.tandfonline.com/doi/full/10.1080/17843286.2018.1547244 DB - PRIME DP - Unbound Medicine ER -