Glutaric acidemia type 2

Glutaric acidemia type 2 is an autosomal recessive metabolic disorder that is characterised by defects in the ability of the body to use proteins and fats for energy.

Incompletely processed proteins and fats can build up, leading to a dangerous chemical imbalance called acidosis.

[citation needed] Glutaric acidemia type 2 often appears in infancy as a sudden metabolic crisis, in which acidosis and low blood sugar (hypoglycemia) cause weakness, behavior changes, and vomiting.

[citation needed] It is important for patients with MADD to strictly avoid fasting to prevent hypoglycemia and crises of metabolic acidosis;[6][7] for this reason, infants and small children should eat frequent meals.

Some small, uncontrolled studies[8][9][10] have reported that racemic salts of beta-hydroxybutyrate (one of the ketone bodies) were helpful in patients with moderately severe disease; further research is needed.

Glutaric acidemia type 2 has an autosomal recessive pattern of inheritance.