Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease

Hoeksma, Marieke; Boon, Maartje; Niezen-Koning, Klary E.; Gils, Lidy van Overbeek-van; Spronsen, Francjan J. van

doi:10.1007/s00431-006-0315-9

Cited by 13 publications

(7 citation statements)

References 21 publications

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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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Section: Resultsmentioning

confidence: 99%

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

2009

Muscle and Nerve

103

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“…Muscle damage causes an increase in creatine phosphokinase (CPK) (1500 IU or 2000 IU) and liver transaminases. 17…”

Section: Ancillary Tests and Diagnostic Methods (Table 1)mentioning

confidence: 99%

Infantile-onset Pompe disease: Diagnosis and management

Bay¹,

Denzler

Durand³

et al. 2019

Arch Argent Pediat

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“…In the present patient, we observed an improvement in muscle strength; however, FVC, and serum levels of CK and transaminases did not improve. Previous reports have stated that sustained elevations in serum CK, ALT and AST levels are highly indicative of muscle fiber damage in GSDII patients (14). Both CK concentration and ALT and AST ratio may help in the differentiation of muscle and liver cell damage (15,16).…”

Section: Discussionmentioning

confidence: 99%

Novel Mutations in the Gene Encoding Acid .ALPHA.-1,4-glucosidase in a Patient with Late-onset Glycogen Storage Disease Type II (Pompe Disease) with Impaired Intelligence

et al. 2011

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A 17-year-old Japanese man was referred to our hospital because of highly elevated serum levels of creatine kinase (CK) and transaminases. On admission, the proximal muscles of the lower extremities were found to be predominantly affected, and a score of 3/5 was obtained on Medical Research Council (MRC) scale. Muscular atrophy was evident and Gowers' sign was positive. His functional vital capacity (FVC) was markedly reduced. The results of the third edition of the Wechsler Adult Intelligence Scale (WAIS-III) indicated impairment of the patient's intelligence. Muscle biopsy showed scattered intracytoplasmic vacuoles with basophilic amorphous materials inside which were strongly stained by both periodic acid Schiff (PAS) and acid phosphatase. Biochemical analysis of the muscle tissue confirmed the diagnosis of GSDII because the glucosidase activity was 1.0 nmol/4 MU/mg/30 min (control range, 7.3 ± 2.2). Genetic analysis revealed a novel compound heterozygous missense mutation in GAA c

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Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease

Cited by 13 publications

References 21 publications

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

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

Infantile-onset Pompe disease: Diagnosis and management

Novel Mutations in the Gene Encoding Acid .ALPHA.-1,4-glucosidase in a Patient with Late-onset Glycogen Storage Disease Type II (Pompe Disease) with Impaired Intelligence

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