Objective

The participant will:

Content

• Distinguish between overflow and renal disorders.

Overflow Versus Renal Disorders

• Indicate the methodology currently used to perform most newborn screening tests.
• Identify the status of specific gene testing methods used for detecting inborn errors of metabolism (IEMs).

Newborn Screening Tests

• List characteristics of phenylketonuria.
• Match the type of tyrosinemia with its associated enzyme deficiency.
• Name the defect associated with the failure to inherit the enzyme that produces homogentisic acid oxidase.
• List the amino acids associated with maple syrup urine disease (MSUD).
• Distinguish between disorders detected in urinalysis.
• Name the amino acid associated with the excretion of indican metabolites and 5-hydroxindoleacetic acid (5-HIAA).
• Name diseases associated with the excretion of indican metabolites and 5-HIAA.
• Match the disorder to a physical characteristic of a urine specimen.
• Specify the cause of cystinuria.
• Identify the cause of cystinosis.
• List the amino acid associated with homocystinuria.

Amino Acid Disorders

• Recognize the origin of porphyrins.
• Identify findings that might indicate the presence of porphyrinuria in a patient.
• List the test(s) currently used for the evaluation of porphyrin compounds.
• Name the best specimen to use when identifying a specific porphyrin.

Porphyrin Disorders

• Identify features of mucopolysaccharide disorders.
• Name the test(s) used to diagnose mucopolysaccharide disorders.

Mucopolysaccharide Disorders

• Specify the significance of finding uric acid crystals in a pediatric urine.

Purine Disorders

• Identify the significance of finding positive copper reducing substances in a urine specimen with a negative glucose oxidase urine test strip.
• Name the enzyme that can cause fatal galactosuria in infants.

Carbohydrate Disorders