Inborn Errors of Metabolism

Peroxisomal Disorders

100

These are two common diseases involving peroxisome biogenesis

What are Zellweger and Neonatal adrenoleukodystrophy?

200

This lab test can detect most peroxisomal disorders

What is very long chain fatty acids?

300

These clinical findings are hallmarks of peroxisomal disorders

What floppiness and seizures?

500

Sending urine for this lab will help you investigate galactosemia

What are urine reducing substances?

Urea Cycle Defects

100

The inability to breakdown this chemical lead to disease in urea cycle disorders

What is ammonia?

200

This is the most common urea cycle defect

What is ornithine transcarbamylase deficiency?

300

This is broad category of diseases, different from urea cycle defects, can also have hyperammonemia

What are organic acidemias or Transient Hyperammonemia of the Neonate

400

In patients with elevated ammonia, this lab test will help you differentiate urea cycle defects from organic acidemias.

What is acidosis

500

This lab test helps you differentiate among the urea cycle defects.

What is citrulline level

Maple Syrup Urine

100

Accumulation of this leads to Maple Syrup Urine Disease

What are branched chain amino acids (leucine, isoleucine, valine)

200

This is the most common time of presentation for Maple Syrup Urine Disease

What is after the second week of life (though can present earlier!)

300

These additional complications of MSUD present life-long challenges unrelated to the initial disorder.

What are osteoporosis and pancreatitis?

400

This urine test is frequently strongly positive in Maple Syrup Urine Disease

What are urine ketones

500

This chemical is conjugated to fatty acid metabolites and therefore analyzing it can give you information about fatty acid oxidation defects.

What is the acyl carnitine profile?

Nonketotic Hyperglycinemia

100

This is often the sole organ involved initially in nonketotic hyperglicinemia.

What is the brain?

200

These two test can help confirm the diagnosis.

What are urine amino acids to detect high renal glycine excretion or CSF-to-plasma glycine.

300

dextromethorphan or ketamine

What are examples of drugs that oppose the action glycine at certain neurons 

400

Most individuals do not reach milestones past those reached by this age.

What is 6 week old infant?

500

This is the place in the cell where fatty acids are metabolized.

What is the mitochondria

Organic Aciduria/Acidemia and others

100

The combination of a very ill infant with these two lab findings should suggest an organic aciduria/acidemia

What is acidosis and elevated ammonia

200

Pyruvate dehdrogenase defect, pyruvate carboxylase defect and mitochondrial respiratory chain defects all result in elevation of this acid.

What is lactic acid

300

This is an inborn error of metabolism that can present with liver disease (Name One)

What is 1. Galactosemia 2. Hepatorenal tyrosinemia 3. Alpha-1-antitrypsin deficience 4. Glycogen storage disease Type 1 5. Fatty acid oxidation disorders 6. Peroxisomal disorders

400

These inborn errors of metabolism can present with impaired cardiac function (name one)

What are 1. Fatty acid oxidation disorders 2. Pompe disease 3. Hepatorenal tyrosinemia

500

Amino acid analysis is indicated not only to rule out amino acid metabolism disease, but also to look at this broad category of inborn error diseases

What is urea cycle defects. The metabolites are amino acids and therefore you can get information from sending studies.