MET PILOT STUDY

Some background on the disorders in this study:

1) Carnitine Palmitoyl Carnitine palmitoyltransferase II deficiency (CPT II),
2) Dienoyl-CoA reductase deficiency (DE RED)
3) Medium/short-chain L-3-OH acyl-CoA dehydrogenase deficiency (M/SCHAD)

These three disorders belong to a group of metabolic conditions known as the “FATTY ACID OXIDATION DISORDERS”. Patients with these conditions cannot change certain fats in the food we eat into energy and depend completely on glucose. Babies and children with these disorders may become very ill when the glucose is not available (as in fasting) or when higher amounts of energy are required (as during infections). It is believed that early treatment may be able to prevent death and disability in some cases. These patients are usually treated by a metabolic specialist or a biochemical geneticist

4) Hyperornithinemia, Hyperammoninemia, Homocitrullinemia Syndrome (HHH)

Patients with HHH are unable to remove nitrogen from their bloodstreams. As a result ammonia in the blood may rise to toxic levels. Patients may become very sick without immediate treatment. These patients are usually treated by a metabolic specialist or a biochemical geneticist

5) Malonic Acidemia (MAL)

Patients with MAL are not able to produce fatty acids as needed or utilize the fats present in food properly. This may cause a low blood sugar, enlarged heart, poor muscle tone, vomiting, diarrhea, dehydration or seizures. These patients are usually treated by a metabolic specialist or a biochemical geneticist

Purpose

The purpose of the MET PILOT study is to understand whether early identification by newborn screening is clinically beneficial.