Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia

National Center for Research Resources (NCRR)

Status: Completed

Conditions: MELAS Syndrome; Lactic Acidosis; Mitochondrial Myopathy

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00004353

NCRR-M01RR00827-0071

UCSD-071

Details and patient eligibility

About

OBJECTIVES: I. Study the metabolism of pyruvate and related problems in patients with lactic acidemia.

II. Define the nature of the metabolic defect.

Full 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.

Enrollment: 35 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

PROTOCOL ENTRY CRITERIA:

• Diagnostically documented elevation in lactate, pyruvate, and/or alanine levels in lactic acidemia patients