It's complicated
Stroke-like episodes with lactic acidosis.
Answer: What is MELAS?
A distinctive sweet odor resembling burnt sugar physical exam suggests this condition.
Answer: What is Maple Syrup Urine Disease?
This calculation identifies unmeasured acids and is typically elevated in organic acidemias.
Answer: What is the anion gap?
Fluid choice used to rapidly provide calories and suppress ketogenesis in metabolic crisis.
Answer: What is D10 or higher concentration dextrose infusion?
Jaundice, vomiting, and E. coli sepsis in a neonate suggests this disorder.
What is Galactosemia?
rapid deep breathing with respiratory alkalosis in a sick neonate most strongly suggests this category of disorder
What is a urea cycle disorder?
An ammonia odor on breath in a patient with acute encephalopathy and normal glucose.
Answer: What is a urea cycle disorder?
Severe electrolyte imbalance that can occur during profound acidosis and dehydration.
Answer: What is hyperkalemia?
In a neonate with severe hyperammonemia and normal glucose and acid-base status, this emergency therapy may be required if levels are critically high.
Answer: What is dialysis
Symptoms beginning after introduction of fruits around 4 to 8 months suggest this disorder.
Answer: What is Hereditary fructose intolerance?
Brain injury resulting from prolonged untreated hyperammonemia.
Answer: What is cerebral herniation?
A musty or mousy body odor in a child with developmental delay.
Answer: What is Phenylketonuria?
These three specialized tests should be sent early when an IEM is suspected, ideally before treatment is initiated
What are plasma amino acids, urine organic acids, and an acylcarnitine profile?
In severe hyperammonemia due to this X-linked urea cycle defect, dialysis is generally recommended when ammonia levels exceed this approximate threshold.
Answer: What is greater than 500 micromol per liter?
Recurrent subdural hemorrhages that may be mistaken for NAI are classically associated with this specific organic acidemia.
Answer: What is Glutaric acidemia type I
Cardiomyopathy and arrhythmia in a child with fasting intolerance should raise suspicion for this metabolic pathway defect.
Answer: What is a fatty acid oxidation defect?
A "sweaty feet" odor in an infant with vomiting and metabolic acidosis is classically associated with this disorder.
Answer: What is Isovaleric acidemia?
This amino acid is typically elevated in one proximal enzyme defect and helps distinguish it from other causes of hyperammonemia.
Answer: What is citrulline?
Vitamin therapy that may dramatically reverse certain neonatal seizure disorders.
Answer: What is pyridoxine?
In a patient with recurrent vomiting, migraine-like headaches, protein aversion, and episodic confusion, this X-linked defect should be suspected.
Answer: What is Ornithine transcarbamylase deficiency?
Progressive macrocephaly followed by acute dystonic crisis after minor illness.
Answer: What is Glutaric acidemia type I?
A cabbage-like or rancid odor in association with macrocephaly and dystonia.
Answer: What is Glutaric acidemia type I?
Elevated orotic acid helps distinguish this proximal defect from carbamoyl phosphate synthetase deficiency.
Answer: What is Ornithine transcarbamylase deficiency?
This nitrogen-scavenging medication binds ammonia by forming an alternative excretable compound.
Answer: What is sodium benzoate?
Severe hypoglycemia with lactic acidosis and hepatomegaly is characteristic of this glycogen storage disorder.
Answer: What is Von Gierke disease?