Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
29 Cards in this Set
- Front
- Back
|
what is the cause of alkaptonuria?
|
an autosomal recessive disorder that causes the person to lack homogentisic acid oxidase
|
|
|
what does homogentisic oxidase do?
|
it is part of the tyrosine degradation pathway
|
|
|
what are the findings in alkaptonuria?
|
- dark connective tissue
- pigmented sclera - urine turns black on standing - possible arthralgias |
|
|
what are the 3 possible causes of albanism?
|
- an autosomal recessive deficiency in tyrosinase which results in the inability to synthesize melanin from tyrosine
- defective tyrosine transporters which decreases the amount of tyrosine and thus melanin - lack of migration of neural crest cells |
|
|
what are people with albanism at an increased risk for?
|
skin cancer
|
|
|
what are the 3 forms of homocystinuria?
|
- cystathionine synthase deficiency
- decreased affinity of cystathionine synthase for pyridoxal phosphate (B6) - homocysteine methyltransferase deficiency |
|
|
how are all 3 forms of homocystinuria inherited?
|
they are all autosomal recessive
|
|
|
what amino acid becomes essential in patients with homocystinuria?
|
cysteine
|
|
|
what is cystinuria?
|
a hereditary defect in the renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in the PCT of the kidneys
|
|
|
how is cystinuria inherited?
|
it is autosomal recessive
|
|
|
what is cystine composed of? what can this cause in the kidneys?
|
- 2 cysteine residues make one cystine residue
- these can precipitate and cause cystine kidney stones |
|
|
how do you treat cystinuria?
|
- use acetazolamide to alkalinize the urine
|
|
|
a patient comes to you and says he noticed his child's diaper smells like burned sugar. what enzyme is deficient?
|
alpha ketoacid dehydrogenase
|
|
|
what is the pathology behind maple syrup urine disease?
|
blocked degradation of the branched amino acids (Ile, Leu, Val) due to a deficiency in alpha ketoacid dehydrogenase
|
|
|
what are the symptoms of maple syrup urine disease?
|
- severe CNS defects
- mental retardation - urine that smells like maple syrup - death |
|
|
what is Hartnup disease?
|
an autosomal recessive disorder charcterized by defective neutral amino acid transporters on the renal and intestinal epithelial cells
|
|
|
what is the deficiency that causes problems in Hartnup disease? how does this manifest in patients?
|
- defective amino acid transporters in the renal and intestinal epithelial cells leads to tryptophan excretion in the urine and decreased absorption in the gut
- this manifests in patients as pellagra (dermatitis, diarrhea, and dementia) |
|
|
glucose 6 phosphatase deficiency
|
Von Gierke's Disease (Type I glycogen storage disease)
|
|
|
lysosomal alpha-1,4-glucosidase deficiency (acid maltase)
|
Pompe's Disease (Type II glycogen storage disease)
|
|
|
alpha-1,6-glucosidase deficiency (debranching enzyme deficiency)
|
Cori's Disease (Type III glycogen storage disease)
|
|
|
skeletal muscle glycogen phosphorylase deficiency
|
McArdle's Disease (Type V glycogen storage disease)
|
|
|
alpha-galactosidase A deficiency
|
Fabry's disease
|
|
|
beta-glucocerebrosidase deficiency
|
Gaucher disease
|
|
|
Sphingomyelinase deficiency
|
Niemann-Pick disease
|
|
|
Hexosaminidase A deficiency
|
Tay-Sachs disease
|
|
|
Galactocerebrosidase deficiency
|
Krabbe's disease
|
|
|
Arylsulfatase A deficiency
|
Metachromatic leukodystrophy
|
|
|
alpha-L-iduronidase deficiency
|
Hurler's disease
|
|
|
iduronate sulfatase deficiency
|
Hunter's disease
|
