Carbon Skeletons and Methyl Donors

Question 1

Essential AA

• glucogenic
• gluco/keto genic
• ketogenic

Gluco/keto non essential

what are the rest

Answer 1

gluco-MTV

Gluco/keto-Isoleucine, phenylalanine, Trp

Keto-Leucine and Lycine (2L’s)

Gluco/keto nonessential-Tyr

Question 2

PKU

Pathophys

Trx

Answer 2

Def in phenylalanine hydroxylase

• Phenylalaine to Tyrosine
• Uses Tetrahydrobiophtern +O2 and makes Dihydrobioptern and H2O

Or defect in getting Tetrahydrobiopoterin (DHPR def)

Phenylalanine builds up-causes decrease in IQ
-Less NT synthesis (needs Tyr)

No phenylalanine in diet/heavy Tyr in diet

Question 3

Blue diaper Syndrome

Answer 3

Failure to absorb Trp into intestine
-transporter defect

Turns into indole by bacterial enzymes-blue color

Question 4

PKD

• inheritance
• pathophys
• Dx

Answer 4

AR/spontaneous

Large cysts form

• kidneymegaly
• block urine flow
• –infection
• –High BP
• –kidney stones (20%)

Ammonia tox

Blood test=high creatine and urea