Elevation of transaminases as an early sign of late-onset glycogenosis type II

Fiore, M. T. Di; Manfredi, Roberto; Marri, Laura; Zucchini, A.; Azzaroli, L; Manfredi, Guido

doi:10.1007/bf01954008

Cited by 13 publications

(6 citation statements)

References 8 publications

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“…Approximately 95% of late-onset patients have an elevated CK23; however, some adults with Pompe disease may have CK levels within the normal reference range. Serum enzymes such as aspartate aminotransferase (AST), alanine aminotransferase (ALT), or lactate dehydrogenase (LDH) may be elevated and may reflect enzymes released from muscle 24. There is increasing evidence of the value of a specific glucose tetrasaccharide in urine [Glc 4 (Glcα1–6Glcα1–4Glcα1–4Glc)] in the evaluation of Pompe disease 25.…”

Section: Diagnostic Confirmationmentioning

confidence: 99%

Pompe disease diagnosis and management guideline

Kishnani

Steiner

Bali

et al. 2006

Genetics in Medicine

493

583

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Section: Diagnostic Confirmationmentioning

confidence: 99%

Pompe disease diagnosis and management guideline

Kishnani

Steiner

Bali

et al. 2006

Genetics in Medicine

493

583

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“…Normal γ‐glutamyltranspeptidase levels indicate that these transaminase elevations are not of hepatic origin. In asymptomatic or mildly symptomatic individuals, persistent elevations of CK31 and/or serum transaminase levels42, 43 have led to further investigation and the subsequent diagnosis of Pompe disease.…”

Section: Resultsmentioning

confidence: 99%

Diagnostic criteria for late‐onset (childhood and adult) pompe disease

2009

Muscle and Nerve

103

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The diagnosis of late-onset (childhood and adult) Pompe disease can often be challenging, as it is a rare disease and the heterogeneous clinical presentation can mimic the presentation of other neuromuscular disorders. The objective was to develop a consensus-based algorithm for the diagnosis of late-onset Pompe disease. A systematic literature search was conducted, and an expert panel composed of neuromuscular specialists and individuals with expertise in Pompe disease reviewed the literature and convened for consensus development. An algorithm for the diagnosis of late-onset Pompe disease was created. Patients presenting with either a limb-girdle syndrome or dyspnea secondary to diaphragm weakness should undergo further testing, including evaluations of muscle strength, motor function, and pulmonary function. A blood-based acid alpha-glucosidase (GAA) enzyme activity assay is the recommended tool to screen for GAA enzyme deficiency. The diagnosis should be confirmed by a second test: either a second GAA enzyme activity assay in another tissue or GAA gene sequencing.

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“…Serum enzymes such as aspartate aminotransferase, alanine aminotransferase, or lactate dehydrogenase may be elevated and may reflect enzymes released from muscle. 41 Patients with Pompe disease, unlike patients with other forms of the glycogen storage diseases, have glycogen storage in the lysosomes and therefore do not typically display abnormalities of glucose metabolism such as hypoglycemia and other metabolic abnormalities. In addition, their responses to epinephrine and glucagon administration are normal.…”

Section: Blood Chemistrymentioning

confidence: 98%