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Published on: February 26, 2017
[Respiratory failure due to acid maltase deficiency]
1Centre de compétence des maladies pulmonaires rares, clinique des maladies respiratoires, hôpital A.-Calmette, CHRU de Lille, boulevard J-Leclercq, 59037 Lille cedex, France.
Revue Des Maladies Respiratoires
|January 14, 2012
Summary
Acid maltase deficiency (AMD), a rare metabolic myopathy, can cause adult respiratory muscle weakness. Non-invasive ventilation and enzyme therapy effectively treat associated alveolar hypoventilation.
Area of Science:
- Neurology
- Pulmonology
- Metabolic disorders
Background:
- Acid maltase deficiency (AMD), a rare metabolic myopathy, often presents in adulthood with respiratory muscle weakness.
- Symptoms include reduced vital capacity, alveolar hypoventilation, and sleep apnea.
Observation:
- Two adult male patients presented with asthenia, exertional dyspnea, and respiratory failure.
- Investigations revealed proximal muscle weakness, reduced vital capacity, hypercapnia, and sleep apnea.
- Electromyography showed a myopathic pattern, and muscle biopsy confirmed AMD.
Findings:
- Non-invasive ventilation partially improved clinical symptoms and resting hypercapnia.
- The patients exhibited carbon dioxide hyporesponsiveness.
Implications:
- Adult-onset AMD is a rare but important consideration in unexplained respiratory failure.
- Non-invasive ventilation combined with enzyme supplementation (Myozyme®) shows promise for treating alveolar hypoventilation in AMD.
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