Inborn errors of metabolism Overview Disorders in which defects of single gene cause clinically significant blocks in metabolic pathways Many kinds of disorders Lower incidence Clinical manifestations vary widely: mental retardation, seizure, hypotonia, failure to thrive. vomiting/anorexia, special odor, hypoglycemia, yperammonemia, metabolic acidosis, elevated lactate/pyruvate etcInborn errors of metabolism Overview • Disorders in which defects of single gene cause clinically significant blocks in metabolic pathways • Many kinds of disorders • Lower incidence • Clinical manifestations vary widely: mental retardation, seizure, hypotonia, failure to thrive, vomiting/anorexia, special odor, hypoglycemia, hyperammonemia, metabolic acidosis, elevated lactate/pyruvate etc