DR DEVSKA DISEASES B3

Question 1

HOMOCYSTINURIA

Eye abnormalities associated with is

Answer 1

Ectopic lectins
Myopia 
Glaucoma 
Optic atrophy
Retinal detachment 
Cataracts

Question 2

Albinism

Answer 2

-defect in the enzymes that are involved in the conversion of tyrosine to melanin
The most severe form is Complete Albinism result is a complete lack of pigment
- An increased risk of skin cancer

Question 3

Ethanol ppt

• The buildup of large amount of NADH form ethanol consumption will interfere with several enzymes from the metabolism of glucose
• **In a well fed state

Answer 3

NADH will inhibit the PDH complex and cause pyruvate to be converted to lactate results are lactic acidosis
Also a secondary effect of lactic acidosis will be the underexcretion of Uris acid, resulting in hyperuricemia

Question 4

ALDH—— Aldehyde dehydrogenase

• *****3 type have been discover
• ***** Many East Asian have an atypical ALDH with a single amino acid substitution

Answer 4

In these individuals the toxic acetaldehyde accumulates to high levels after one to two drink
=====»»>Result in the oriental flush response, with vasodilation, tachycardia, ect

Question 5

Acetaldehyde is very toxic and most of the physical damage that chronic alcohol abuse cause can be attribute to its toxic effect ======»>Symptoms of acetaldehyde toxicity is

Answer 5

Flushing of the face and nausea
The drug DISULFRIAM (ANTABUSE) INHIBIST ALDEHYDE DEHYDROGENASE, WHICH RESULT IN THE ACCUMULATION OF ACETALDEHYDE AFTER INGESTION OF ETHANOL

Question 6

TWO VITAMIN DEFICIENCIES ARE PARTICULARLY PREVALENT IN ALCOHOLICS

Answer 6

===>FOLATE DEFICIENCY: MEGALOBLASTIC ANEMIA

===> THIAMINE DEFICIENCY: WERNICKE-KORSAKOFF SYNDROME