Biochem pp 106-110

Non departmental 1 with No at University of Pennsylvania

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By: Josh Benham
Created: 2011-02-22
Size: 33 flashcards
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Phenylalanine used to make what?

Tyrosine -> Dopa -> Melanin/Dopamine -> NE -> Epi

Tryptophan used to make what?

Niacin (w/ B6) -> NAD/NADP+ OR Serotonin (w/BH4) -> melatonin

Histidine used to make what? w/ what?

Histamine w/ B6

Glycine used to make what? w/ what?

Porphyrin w/ B6 -> Heme

Arginine used to make what?

Creatine, Urea, or NO

Glutamate used to make what? w/ what?

GABA w/ B6 OR Glutathione

Catecholamine synth: what enz crucial to two steps?

Tetrahydrobiopterin (BH4) for Phenylalanine -> Tyrosine and for Tyrosine -> Dopa (not dopamine)

Dopa -> Dopamine requires what vitamin? Inhib by what?

B6. Inhib by Carbidopa

Dopamine -> NE requires what things?

Dopamine B-hydroxylase enz, Vit C, Copper

NE -> Epi requires what?

S-adenosyl-methionine (SAM)

Where do MAO and COMT work? What make?

Breakdown: Dopamine -> homovanillic acid NE -> Vanillylmandelic Acid Epi -> Metanephrine

High serum Vanillylmandelic acid seen in what?

Pheochromocytoma

2 causes of PKU?

Decr Phenylalanine hydroxylase or Decr Tetrahydrobiopterin cofactor

Pt w/ MR, growth retard, sz, fair skin, eczema, musty body odor?

PKU.

Tx for PKU?

Decr Phenylalanine, Incr Tyrosine in diet

Infant has microcephaly, MR, growth retard, congenital heart defects. Mom has what?

PKU poorly controlled during pregnancy

Urine turns black, dark connective tissue/cartilage, pigmented sclera, arthralgias. What dx? What tx?

Alkaptoneuria. Tx: low protein diet

What are three causes of albinism?

Low Tyrosinase (can't make melanin), Defective tyrosine transporters (low amounts of tyrosine), Neural crest cell migration fail.

Three mechanisms for Homocystinuria?

1. Cystathionine synthase deficiency 2. Decr affinity of Cystathionine Synthase for Pyridoxal phosphate 3. Homocysteine methyltransferase deficiency

MR, osteoporosis, tall, kyphosis, lens subluxation, atherosclerosis. Dx? Tx?

Homocystinuria. Tx: incr B6, B12, Folate, Cysteine intake

Find staghorn calculi. What likely AA-related prob? What tx?

Cystinuria. Cystine kidney stones from busted transporter reuptake in PCT. Take Acetazolamide to alkalinize urine, also PO hydration

Cant degrade Ile, Leu, Val. CNS defects, MR, death, sweet smelling urine. What dx? What problem? What tx?

Maple Syrup Urine Disease. Defect a-ketoacid dehydrogenase (can't degrade branched AA's), Tx: lifelong dietary restriction of these

Prob w/ tryptophan absorp transporter in intestine. Get what dx?

Hartnup Disease. Manifests as Pellagra - Dementia, Dermatitis, Diarrhea. Low B3 (Niacin)

What 3 major enzymes activate each other for Glycogenolysis?

Prot Kinase A -> Glycogen phosphorylase kinase -> Glycogen phosphorylase which lyses glycogen

Glucagon and Epi act by what mechanism in glycogenolysis?

Adenylyl cyclase making cAMP

What alternate pwy for activating glycogen phosphorylase kinase unrelated to glucagon or Epi?

Ca++ or Calmodulin in muscle actvates w/o these, so can get glucose w/ muscle activity.

What end of glycogen gets glucose added to it?

the non-reducing end

What is the name of the smallest branched glycogen before debranching occurs? How many gluc molec?

Limit Dextran. 4 Gluc beyond the branching one.

Debranching enzyme leaves what behind?

1 glucose branch. Takes the other 3 and adds to long strand.

Severe fasting hyperglycemia, LOTS glycogen in liver, incr blood lactate, hepatomegaly? What dx? What deficiency? What tx?

Von Gierke's disease. Type I Gly storage dis. Lacks Gluc-6-Phosphatase. Tx: nocturnal IV gluc, or PO cornstarch

Cardiomegaly, systemic findings, glycogen high IN lysosomes, early death. Dx? Prob? Tx?

Pompe's Disease (type II gly storage dis). Lacks Lysosomal a-1,4-glucosidase (acid maltase). Tx: enzyme replacement

Fasting hypogly w/ incr Dextran?

Cori's disease (Type III gly storage dis). Lacks debranching enzyme, but GNG ok. Mild form of Von Gierke's

Incr glycogen in muscle, unable to break it down. Myoglobinuria w/ exercise, muscle cramps.

McArdle's disease (type V glycogen storage dis). Lacks skeletal musc glycogen phosphorylase.

About this deck

By: Josh Benham
Created: 2011-02-22
Size: 33 flashcards
Views: 1

About StudyBlue

“I have used this website for three exams, and I see a huge difference in my test results.”
Naj