Gene Therapy Flashcards
For single-gene disorders due to loss of function mutations, treatment is directed to…
Replacing the defective protein, improving its function, or minimizing the consequences of its deficiency.
In Phenylketonuria (PKU), Phenylalanine hydroxylate deficiency results in______
Intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders.
The treatment of Phenylketonuria consists of___
Restriction of dietary phenylalanine
The generally accepted goal of treatment of individuals with PAH deficiency is _____
normalization of the concentrations of Phe (phenylalanine) and Tyr (tyrosine) in the blood and thus prevention of the cognitive deficits that are attributable to this disorder.
Mapple syrup urine disease is an inborn error of metabolism that results in…
decreased branched-chain ketoacid dehydrogenase enzyme activity
Mapple syrup urine disease can result in…
fatal irreversible neurocognitive deficits
Mapple syrup urine disease clinical findings:
-Maple syrup odor in cerumen is the first detectable clinical sign within the first 12 hours after birth.
-2 to 3 days of age: Irritability, ketonuria, and poor feeding
-A worsening course of encephalopathy presents as apnea, opisthotonus,
and lethargy. Furthermore, fencing and bicycling movements can also
develop by the age of 4 to 5 days
What is the main therapy for Maple syrup urine disease?
Medical Nutritional Therapy
In Maple syrup urine disease to initiate the treatment _____ is required.
clinical confirmation and a positive newborn
screening result.
In maple syrup urine disease the mainstay of treatment remains…
the dietary restriction of
branched-chain amino acids.
These dietary modifications (in maple syrup urine disease) need to be maintained
throughout life. The goals of nutritional therapy are as follows:
*Promote anabolism
*Prevent catabolism
*Promote normal growth and weight gain
*Preserve intellectual function
*Enable restriction of branched-chain amino acid in the diet, which helps reduce toxic
metabolites
Replacent consists of:
The provision of essential metabolites, cofactors, or hormones whose deficiency is due to a genetic disease is simple in concept and often simple in application.
An example of the replacement therapy is provided by:
Congenital hypothyroidism, of which 10% to 15% of cases are monogenic in origin.
Enzyme inhibition of enzymes is sometimes used to:
Reduce the
impact of metabolic abnormalities in treating inborn errors.
Example of enzyme inhibition could be:
treatment of heterozygotes of familial hypercholesterolemia If a statin, a class of drugs that are powerful inhibitors of 3-hydroxy- 3-methylglutaryl coenzyme A reductase, or HMG CoA reductase (the rate-limiting enzyme of cholesterol synthesis), is used to decrease hepatic de novo cholesterol synthesis.
