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21 Cards in this Set
- Front
- Back
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Heritable changes require housekeeping genes and genes with specific activities... describe the role of each
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houskeeping- expressed in all cell
types – Constitutively expressed – Regulated Specific- tissue specific, developemental regulation |
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With metabolic inherited disorders what is main type of treatment?
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Dietary restrictions of substrate...
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With the following conditions what do you have to replace?
a. menkes b. cystic fibrosis c. hypophosphatemic rickets d. andrenogential syndromes e. familial goiters f. orotic aciduria |
• Menkes syndrome - copper
• Cystic fibrosis – pancreatic enzymes • Hypophosphatemic rickets – vitamin D and phosphate • Adrenogenital syndromes – cortisol ± mineralocorticoids • Familial goiters - thyroxine • Orotic aciduria - uridine |
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What are the three metabolic disorders that require repletion of storage substances
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• Wilson’s disease – copper removal
• Hypercholesterolemia • Hemochromatosis - iron |
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What are the essential amino acids?
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Phenylalanine, Valine, Tryptophan, Threonine, Isoleucine, Methionine, Histidine, Arginine, Leucine, Lysine,
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What conditions are considered aminoacidurias?
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1. • Phenylketonuria – phenylalanine – Mousey odor
2. Tyrosinemia – tyrosine – Cabbage-like odor 3. MSUD – BCAAs – Burnt sugar odor |
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PKU aka?
clinical? types? |
phenylketonuria- microcephaly, light hair, bluish eyes, postural peculiarities, musty body odor
IQ<30 1. classic- absence of phenylalanine hydroxylase (PAH) 2. Type II- insufficient BH4 (dihydropteridine reductase) leads to BH2- deficit 3. Type III- dihydrobiopterin synthetase deficit |
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PKU ... shows elevated what (type I)
Test for PKU? |
a. elevated PHE
b. reduced or normal TYR damage at 0-6 months - test- guthrie test which is a bacterial inhibition assay and depends on growth of B. subtilis |
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Type II PKU lab levels
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Elevated PHE
• Reduced or normal TYR • Reduced BH4 • Elevated BH2 • Dopamine, serotonin levels low • Unresponsive to PHE restricted diet |
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With maternal PKU what is cause?
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PKU in high levels experienced by child in utero
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Alkaptonuria very common sign?
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Black urine=
- mutation on homogentisic acid |
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Albinism inheritance?
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AR- mutation in tyronsinase
- 1. tyrosinase negative 1B- tyrosinase reduced 2. tyrosinase activity is positive (MC) |
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Type IB general reduction in pigmentation
Type II albinism identified by? |
Type IB- general reduction in pigmentation
Type II – Presence of pigmented nevi – Difficult to identify in blacks • Hair will be yellow or very light colored |
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Tyrosinemia inheritance and d/t?
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AR
p-hydroxyphenylpyruvic acid excreted in urine d/t lack of p-hydroxyphenylpyruvic oxidase |
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Type I and II types and physical stuff of tyrosinemia
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• Type I – hepatorenal tyrosinemia
– Potentially fatal due to renal dysfunction and liver failure • Type II – oculocutaneous tyrosinemia – Usually presents with photophobia and conjunctivitis during first year due to tyrosine crystals |
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Homocystinuria... enzyme prob?
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deficit of cystathionine-B-synthase increases homocystine and methionine in the urin
- two other enzymes increase MET and CYS- methionine synthase 5,10-MTHR Could give B6 |
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Homocystinuria... clinical?
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• Tall, long limbs
• Dislocated lens (ectopia lentis) - downward • Vascular abnormalities • Developmental and mental delay may occur • Skeletal abnormalities |
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Clinical of maple syrup urine disease?
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Symptoms appear 3-4 days after birth
– Feeding difficulties, vomiting, lethargic – Generalized muscular rigidity and convulsions – Progressive neurodegeneration |
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maple syrup urine disease? found in urine and plasma?
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elevated BCAAs and alpha-ketoacids create the burnt sugar smell
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What are the three types of MSUD?
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1. classic- MC type.. little or no enzyme activity
2. intermediate 3. intermittent MSUD |
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Galactosemia classical form enzyme problem?
Non-classical form? |
build up of galactose due to Galactose1- phosphate uridyl transferase problem.
- non-classical = galactokinase |
