Exam 3 Diseases

Question 1

Acute Pancreatitis

Answer 1

• inflammatory disease of pancreas
• causes–>not well understood–> include ETOH, infection, gallstones
• digestive enzymes activated in pancrease–>SHOULDN’T HAPPEN–> should be activated in duedonum
• condition ranges–> mild (stomach pain/vomiting) to severe (pancreatitic necroisis)
• Treatment–>supportive and fasting

Question 2

Hartnup Disease

Answer 2

• rare genetic defect
• blocks activity of AA transporter for uptake–> for large neutral AA (Phe, Tyr, Trp, Met, Val, Leu, Ile)
• same transporter also in kidney–>promixal tube of kidney–> responsible for reabsorpition of neutral AA in ultrafiltrate
• Pts exhibit–>malabsorption of dietary AA and neutral AA in urine
• symptoms resemble Pellegra (3 D’s)
• ->Dermatitis, Diarrhea, Demantia

Question 3

Celiac Disease

Answer 3

• inappropriate immune response to alpha-gliadin–>protein found in gluten
• results in reduction of malabsorption area in small intestine–>the villa–> and they can appear flat
• symptoms–>nutrient deficiency–>pts also have bloating/cramps–like lactose intolerance
• treatment–>strict avoidance of foods with alpha-gliadin (gluten)

Question 4

Phenylketonuria (PKU)

Answer 4

• pts unable to convert phenylalanine to tyrosine–>major route of disposal becomes–> transamination of phenylalanine to phenylpyruvate
• lots of phenylpyruvate in urine
• results from a different mutations in gene encoding–>phenylalanine hydroxylase (quiet common) and less commonly from gene encoding dihydrobiopterin reductase
• symptom–>severe intellectual disability, recurrent seizures, hypopigmentation, eczematous skin rashes
• Pathology of phenylalanine–>accumulation of phenylalanine competitively inhibits the transport across the blood/brain barrier of other amino acids required for protein/neurotransmitter synthesis—increased phenylalanine–>reduced synthesis and increased myelin degradation–>not good!!–>lastly phenylalanine is inhibitor of tyrosinase

Question 5

Pernicious anemia

Answer 5

-results from a lack of intrinsic factor–>can’t absorb Vit B12

Question 6

Megaloblastic anemia

Answer 6

• megaloblastic cells reach large size because they are unable to complete cell division due to deficient DNA replication
• DNA replication is impaired from the lack of purine rings/thymidine which results from the lack of N5-N10-methylene THF which results from vitamin B12 deficiency which is need to convert N5-methyl THF back to THF