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18 Cards in this Set

  • Front
  • Back
What is the biochemical and molecular basis for the inborn errors in amino acid metabolism?
Deficiency of enzyme activity, deficiency of enzyme protein, cofactor abnormalities, transport defects, defects in structural proteins
What does CRM stand for and what does it mean?
CRM= cross reactive material; defined as a prtoein produced by a mutant gene that reacts antigenically with antibody against the normal protein.
What are the basic features of the inborn errors?
1. Patients appear normal at birth
2. Autosomal recessive inheritance
3. Diagnosed by specific laboratory tests
What is clinical heterogeneity?
different patients with the same disorder expressing the trait differently
What is biochemical heterogeneity?
different patients with blocks in the same metabolic pathway having different accumulatins of metabolites
What is molecular heterogeneity?
different patients with different mutations in the same gene
what is locus (genetic) heterogeneity?
different genes that code for different enzymes within the same pathway
what are the five deficiencies in the urea cycle?
CPS, OTC, AS, AL, and arginase
What are the causes of hyperamonemia?
1. Liver disease
2. transient hyperammonemia of the newborn
3. Reye syndrome
4. Poisonings
5. Inborn errors of metabolism
Which urea cycle deficiency differs due to the frequent absence of hyperammonemia and a clinical picture of spastic diplegia and is often diagnosed as cerebral palsy?
Arginase deficiency
What is the primary cause of PKU
Deficiency of the liver enzyme phenylalanine hydroxylase (PAH)
What is the incidence of PKU?
The incidence is approximately 1:12,000
What are the clinical features of PKU (untreated)?
Normal appearing at birth; no acute illness

Seizures, hypopigmentation, eczema, "musty" odor, irreversible mental retardation
what is the treatment for PKU?
Dietary restriction (but not absence) of phenylalanine; recommended for life.
What is the cause of nonketotic hyperglycinemia?
Deficient activity of glycine cleavage system due to defect, in most cases of either the T or P protein of the glycine cleavage system complex.
What is the acute presentation of nonketotic hyperglycinemia?
Poor feeding, lethargy, intractable seizures, profound hypotonia, coma and death.
Homocystinuria is caused by ?
an inborn error in pathway of sulfur metabolism.
What are the clinical features of homocystinuria?
Marfan-like presentation with abormal long bone formation; dislocated lenses; blindness; increased risk for thromboembolytic events involving both large and small vessels, especially the brain; variable mental retardation.