A Prospective, Longitudinal, Observational, Multi-centre Study of Pediatric Participants up to 16 Years of Age With Methylmalonyl-CoA Mutase Deficiency Caused by Mutations in the MMUT Gene That Results in a Diagnosis of Isolated Methylmalonic Acidemia (MMA).

Summary

Methylmalonic Acidemia (MMA) is a severe and rare condition that affects how the body turns food into energy. In people with MMA, the body is missing or has a very low activity of a specific protein (an enzyme called methylmalonyl-CoA mutase (MMUT)) needed to break down certain proteins and fats in everyday food. Because this process does not work properly, a harmful substance called methylmalonic acid builds up in the blood and tissues, causing damage in the body. Most people with MMA have an altered MMUT gene, which affects the enzyme methylmalonyl-CoA mutase. MMA often appears in infancy or early childhood, but some people are diagnosed later. MMA affects approximately 1 in every 100,000 babies born and primarily impacts the liver, brain and kidneys. MMA poses significant challenges as it can result in complications such as dangerous acid levels in the blood, problems with the brain and nerves, visions problems, problems with how the pancreas, liver, and the kidneys work, as well as growth and development delays. The main purpose of this observational study that tracks how the disease develops over time is to gather necessary data and evidence to confirm which signs in the body and blood test results can reliably show disease activity related to MMA. These confirmed signs and blood test results will be used for future research into developing new treatments for MMA. The data will be collected from participants with severe symptoms with and without liver transplant.

Description

Eligibility

Age range

Up to 16 years

Sex

All

Healthy volunteers

No

Locations (8)