Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders

Introduction

We invite you to read about the National Institutes of Health (NIH) sponsored research study named Clinical and Basic Investigations of Methylmalonic Acidemia (MMA). The study will evaluate patients with MMA and related disorders to learn more about the genetic causes of the various types of these inherited metabolic disorders and the medical complications associated with them.

People with MMA and cobalamin disorders may have difficulty with growth and development, neurological problems such as strokes, seizures and low muscle tone, kidney problems, poor vision, and metabolic instability causing them to become seriously ill, sometimes with little warning. There is no cure for any type of MMA, but special diets, vitamin therapies and in some patients, organ transplantation, are used for treatment.

To find out more about the MMA study at the National Human Genome Research Institute (NHGRI), please explore the MMA Study Web pages or contact Jennifer Sloan (jsloan@mail.nih.gov) or Dr. Venditti (venditti@mail.nih.gov) for more information.

Charles P. Venditti, M.D., Ph.D.
National Human Genome Research Institute
National Institutes of Health


Last Reviewed: April 20, 2012