Inborn Errors of Metabolism. An inherent deficiency in a key metabolic pathway resulting in Cellular Intoxication Energy deprivation Mixture of the two. Inborn Errors of Metabolism. IEM as a group are not rare: occur 1 in 5000 births collectively Often treatable if diagnosed
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. . . should be suspected of having a metabolic disorder
All present with lethargy, seizures, ketoacidosis, neutropenia, hyperammonemia, and/or hyperglycinemia
STRIVE TO IDENTIFY PRIMARY METABOLIC DISORDER
Musty or Mousy: Metabolism
Tyrosinemia or hypermethioninemia
maple syrup urine disease
isovaleric acidemia or glutaric acidemia type II
multiple carboxylase deficiencies (Biotin deficiency)What’s that smell?