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[26-year-old female patient with elevated liver enzymes]
K Martin1, B Schlotter, J Müller-Höcker
1Medizinische Klinik, Klinikum Innenstadt, Ludwig-Maximilians-Universität, München, Germany.
Zeitschrift Fur Gastroenterologie
|November 19, 2002
Summary
This case study describes an adult diagnosed with Pompe disease, a rare genetic disorder characterized by muscle weakness and glycogen accumulation. Early diagnosis is crucial for managing this glycogenosis type II.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Glycogenosis type II, also known as Pompe disease, is a rare inherited metabolic disorder.
- It results from a deficiency in the enzyme acid alpha-glucosidase, leading to glycogen accumulation in lysosomes.
Observation:
- A 26-year-old woman presented with elevated liver enzymes and mild proximal muscle weakness.
- Liver investigations, including ultrasound and biopsy, were unremarkable.
- Muscle biopsy revealed vacuolar degeneration with significant glycogen deposits.
Findings:
- Biochemical analysis confirmed excess muscle glycogen and severely reduced acid maltase activity (<10% of normal).
- These findings, combined with clinical presentation, led to the diagnosis of adult-onset Pompe disease.
Implications:
- This case highlights the importance of considering Pompe disease in adults with unexplained muscle weakness and elevated liver enzymes.
- Despite limited therapeutic options for this adult-onset form, early diagnosis allows for monitoring and potential future treatment strategies.