E3 Dissorders

The defective pathway is the degradation of the branched-chain amino acids leucine, isoleucine, and valine

Maple Syrup Urine Disease

Major Under-N disease caused predominantly by protein deficiency

Kwashiorkor

Major Under-N disease caused predominantly by deficiency in all macronutrients

Marasmus

Marasmus

Severe muscle and tissue wasting

no swelling

severe loss of carbs, lipids, proteins

Protein-E malfunction

Kwashiorkor

acute protein malnutrition

irritability (neurotransmitter deficiency)

large belly

ademea

always hungry

Phenylalanine Urea

over accumulation of phenylalanine

Treatments to PKU

1 Low phenylalanine diet

2 Treat with TYR

Homocysteine urea

Buildup of homocysteine when cysteine-b-synthase is deficient

Treatable with VB6 (PLP)

Characteristic Sympotoms of Homocystein urea

Drifting of eye lenz

scholosis/bone dissorders

Jaundice

inability to breakdown Bilirubin into bile efficiently (buildup of bilirubin)

Biliruben may pass thorugh blood brain barrier

Folate cycle targets for chemotherapy

1 5-fluorouracyl

2 Methotrexate

5-fluorouracyl

inhibits thymidylate synthase after its converted to 5-fluoro-dUMP

(pro-drug → must be activate by proteins in body)

methotrexate

Inhibitor or dihydrofolate reductase

indirect inhibition

Compeditive inhibition by folate analouge

Hyperanonemia

Clear sign that orotid acid urea stems from a problem with the UREA CYCLE

(Hyperanonemia → “hyper ammonia”)

Megaloblastic anemia (within normal seurum B12)

Clear indication that orodic acidurea is the cause of defects in Pyrimidine synthesis

Shows impariment of DNA synth

Treatable with Uridine

Orodic Acidurea causes (cytosolic)

Orodic phosphoribosyl transferase

Oroduc-sp-dehydrogenase

Lesch-Nyhat Syndrome

PURINE salvage impairment

HGPRT impairment

Symptorms: self harm/mutylation, int-deff, hostility

Urea can accumulate (like gout)

Gout

Urea crystal lodge themselves in joints

caused by under-excretion of urea or overproduction of uric acid (from xs breakdown of purines or recessive traits)

Alloprenol

Treatment for gout

inhibits xanthine oxidase

Metaloblastic Anemia

VB12 or folate defficenty

Cells can no longer devide properly

5-methyl-THF may accuulae and become a folate trap

Signs associated with folate trap

megacytoblasts may appear; ie immature and enlarged RBC

RBC may be replaced with a smaller number of abnormally large RBC (macrocytes)

Phototherapy converts bilirubin into more water-soluble forms that can be excreted without requiring normal hepatic conjugation

Explain how phototherapy helps with bilirubin