AUTOSOMAL RECESSIVE DISORDER Flashcards
Thalassemia
A child who inherits 1 mutated gene is a carrier, which is
sometimes called
“thalassemia trait.”
Alpha thalassemia
← occurs when a mutation in the gene
that codes for alpha globin results in reduced or absent
production of alpha globins.
Beta thalassemia
← occurs with a corresponding change
in the beta globin gene.
Thalassemia is a result of
quantitative mutations in the
globin genes
Cystic Fibrosis
an example of a recessive disease with lung and
pancreatic involvement
Cystic Fibrosis caused by mutations in the gene that produces the
cystic fibrosis transmembrane conductance regulator
(CFTR) protein
(CFTR) protein
This protein is responsible for regulating the flow of
salt and fluids in and out of the cells in different parts
of the body
Galactosemia
an autosomal recessive genetic disorder causing
difficulty in regulating sugar found in milk
Galactosemia
Accumulation of ____is thought to
cause the other signs and symptoms of disease.
galactose-1-phosphate
Lactose intolerance
inability to break down the milk
sugar lactose
does not appear helpful in
patients win galactosemia
Arginine supplementation
Sickle cell disease
A person with sickle cell disease makes a different kind of
hemoglobin called “sickle” hemoglobin
Hurler’s Syndrome
also known as
mucopolysaccharidosis Type IH (MPS-IH)
Hurler’s disease
d formerly gargoylism
Hurler’s Syndrome
a genetic disorder that results in the buildup of large
sugar molecules called glycosaminoglycans (GAGs, or
mucopolysaccharides) in lysosomes.
Hurler’s Syndrome
Causes:
Deficiency of the alpha-L iduronidase
Hurler’s Syndrome
Symptoms
clouding of the front part of the eye (corneal
clouding)
frequent upper respiratory infections.
enlarged tonsils and/or adenoids.
distinct facial features (coarse facial features)
hernias
Hemochromatosis
gene called HFE is most often the cause of hereditary
hemochromatosis
Hemochromatosis
gene called HFE
The HFE gene has 2 common mutations
C282Y
H63D
Congenital Adrenal Hyperplasia (CAH)
an inherited condition caused by mutations in genes that
code for enzymes involved in making steroid hormones in
the adrenal glands
Congenital Adrenal Hyperplasia (CAH)
The most common enzyme defect, ______ leads to excess amounts of male hormones
being produced by the adrenal glands
21-hydroxylase
deficiency,
