Name
GLYCOGEN STORAGE DISEASE TYPE II ( POMPE DISEASE )
DESCRIPTION
DETAIL
D.D. : - ALCOHOLIC FATTY LIVER - OTHER FORMS OF GYCOGEN STORAGE DISEASES - HAEMOLYTIC UREMIC SYNDROME - HEPATIC CARCINOMA, PRIMARYOTHER TESTS : * SERUM CREATINE KINASE LEVELS - INCREASED * URINE STUDIES - FOR MYOGLOBINURIA, PRESENT IN SOME CASES * ISCHMIC FOREARM TEST - NORMAL STUDY * MUSCLE BIOPSY - VACUOLAR MYOPATHY * ELECTROMYOGRAPHY - MYOPATHIC FINDINGS, FIBRILLATION POTENTIALS, MYOTONIC DISCHARGES & ELECTRICAL MYOTONIA WITHOUT CLINICAL MYOTONIA SEEN
TYPENOTES
A genetic counselor can determine risk to future offspring." In general, no specific treatment exists for GSDs. " In some cases, diet therapy is helpful. Meticulous adherence to a dietary regimen may reduce liver size, prevent hypoglycemia, allow for reduction in symptoms, and allow for growth and development. " In 2000, Zingone and colleagues demonstrated the abolition of the murine clinical manifestations of Von Gierke disease with a recombinant adenoviral vector. These findings suggest that corrective gene therapy for GSDs may be possible in humans. " An encouraging study in 1999 by Bijvoet, Van Hirtum, and Kroos provides evidence of successful enzyme replacement for the mouse model of Pompe disease, which may lead to therapies for other enzyme deficiencies. " For the infantile form, a recombinant enzyme replacement has recently been approved by the FDA. " A high-protein diet may be beneficial in the noninfantile form. " Respiratory toilet is important in noninfantile cases. Consultations " Consult a tertiary care center with access to a neurologist specializing in muscle disorders. This is helpful for determining differential diagnosis and the risk for other family members. " " A genetic counselor can determine risk to future offspring. " " Because of the supportive nature of care for infants with this disease, an expert in pediatric cardiology may be very beneficial. Diet A high-protein diet may provide increased muscle function in cases of weakness or exercise intolerance. In particular, a high-protein diet containing branched chain amino acids may slow or arrest disease progression. Further Inpatient Care " Patients may require support by mechanical ventilation. Complications " In the infantile form, cardiomegaly and congestive heart failure lead to death. " In the infantile form of glycogen storage disease (GSD), cardiomegaly and congestive heart failure lead to death. Prognosis " The adult form is not necessarily fatal, but complications such as aneurysmal rupture or respiratory failure may cause significant morbidity or mortality. " Although the infantile form typically is fatal, newer research offers promise. o Sun and colleagues report treatment with a muscle-targeting adeno-associated virus vector in knockout mice resulted in persistent correction of muscle glycogen content. o Mah and colleagues report sustained levels of correction of both skeletal and cardiac muscle glycogen with recombinant adeno-associated virus vectors in a mouse model.
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
BLOOD SUGAR ( FASTING ), URINE ROUTINE, COMPLETE BLOOD COUNT, ECHOCARDIOGRAPHY, ELECTROMYOGRAPHY, ECG, BIOPSY STRIATED MUSCLE, URINE MYOGLOBULIN, LIVER FUNCTION TEST