Lactic Acidosis, MELAS Syndrome, Mitochondrial Myopathy
Conditions
Keywords
MELAS syndrome, inborn errors of metabolism, lactic acidosis, mitochondrial myopathy, rare disease
Brief summary
OBJECTIVES: I. Study the metabolism of pyruvate and related problems in patients with lactic acidemia. II. Define the nature of the metabolic defect.
Detailed description
PROTOCOL OUTLINE: Patients fast for 6 hours. Glucagon IM is administered after the 6 hour fast. Glucose level is measured at 0, 15, 30, 45, 60, and 90 minutes. In children of sufficient size, alanine and lactic acid should also be measured at each or most of these time points. Fasting continues for at least 18 hours. Glucagon IM is administered again at end of fast. Glucose level is measured at time 0, 15, 30, 45, 60, and 90 minutes.
Interventions
None listed
Sponsors
Eligibility
Inclusion criteria
PROTOCOL ENTRY CRITERIA: * Diagnostically documented elevation in lactate, pyruvate, and/or alanine levels in lactic acidemia patients
Countries
United States