Initial management of acute metabolic decompensation

What it is

The setting is a child who turns out to have a metabolic disorder. The clues to a metabolic disorder are: healthy at birth then progressively sick; may present hours to years after birth; family history.

The major classifications are:

• Protein: organic acidemias, amino acid metabolism, urea cycle defects.
• Fat: fatty acid oxidation defects.
• Carbohydrate: galactose, glucose, fructose.
• Others: lysosomal storage disease, peroxisomal disease.