Diseases Flashcards
What enzyme is deficiency for Nieman-Pick Disease?
Clinical Manifestation?
A-SMase
cherry red spot
what cayses Spur cell anemia? how does this change the cells? What does this lead to?
Excess cholesterol
Acanthocytes develop
Hemolysis of rbcs
What causes cystinuria? What does this lead to?
Defective cystine amino acid reuptake transporter
leads to kidney stones
What causes Hartnup Dz?
Defect in non-polar amino acid transporters (Alanine, Valine, Thiamine, Leucine, Tryptophan)
Tryptophan is the precursor for Serotonin, Melatonin, and Niacin
What causes Tarui’s disease?
PFK deficiency
What causes Fanconi-Bickel Syndrome?
Deficiency in GLUT2, which causes the inability of the liver to take up Glucose, Fructose, or Galactose
What causes Maple Syrup Disease?
What are the 3 amino acids that are excesive for this disease?
What is the treatment
Deficiency in Branched Chain Alpha-keto Acid Dehydrogenase (BCKD)
I Love Vermont Maple Syrup (Isoleucine, Leucine, Valine)
Tx is a synthetic diet that limits BCAA’s
What causes phenylketonuria (PKU)? What is the clinical manifestation?
Deficiency in Phenylalanine Hydroxylase (PAH)
causes musty urine odor
What causes Lesch-Nehan Syndrome?
Deficiency in Hypoxanthine-Guanine Phosphoribosyltransferase (HGPRT), which is used to male GMP or IMP
What causes Kwashiorkor disease?
Protein deficiency
What causes Marasmus?
Protein and calorie deficiency
What causes gout? What is the treatment?
High uric acid
Treatment is to decrease purine intake in your diet (beans, spinach, lentils)
What disease does Vitamin E deficiency cause?
Crohns
