Disorder	Organ or system affected	Signs of metabolic instability and/or clinical considerations	Neurodevelopmental effects (if not treated)
β-ketothiolase deficiency	CNS	Episodic hypoglycemia, acidosis, hyperammonemia, ketonemia, lethargy	Motor deficits, intellectual developmental disabilities
Glutaricacidemia type I	CNS	Metabolic ketoacidosis, failure to thrive	Motor deficits, severe dystonia, athetosis; cognition often intact
Holocarboxylase synthetase deficiency	Pulmonary, skin	Acidosis, hyperammonemia, ketonemia; episodic hypoglycemia, lethargy	Developmental delay, hypotonia, seizures
3-hydroxy-3-methylglutaric aciduria	CNS	Hypoglycemia	Developmental delay, hypotonia
Isovalericacidemia	CNS	Ketoacidosis, hyperammonemia, hypoglycemia, ketonuria, sweaty feet odor, vomiting, dehydration, failure to thrive	Developmental delay, motor deficits, intellectual developmental disabilities
3-methylcrotonyl CoA carboxylase deficiency	CNS	Episodic hypoglycemia, lethargy	Developmental delay, hypotonia; often asymptomatic
Methylmalonicacidemia (cobalamin disorders)	CNS	Ketoacidosis, hyperammonemia, ketonuria, hypoglycemia, vomiting, dehydration, failure to thrive	Developmental delay, intellectual developmental disabilities, speech defects
Methylmalonicacidemia (methylmalonyl-CoA mutase)	CNS	Acidosis, hyperammonemia	Developmental delay, intellectual developmental disabilities, movement disorders
Propionicacidemia	CNS	Acidosis, hyperammonemia	Developmental delay, intellectual developmental disabilities, speech defects