Specialized AA products

Question 1

Albinism

Answer 1

Cause: Deficiency/defect in the Tyrosinase (CU+2) enzyme in Melanocytes
Result: Inability to produce Melanin
Sx: •Severe forms > Oculocutaneuos Albinism
• Inc sunburn and skin cancer
•Lower visual acuity & Photophobia
•Light colored hair & skin

Question 2

Parkingson’s Disease

Answer 2

Cause: Loss of Dopamine secreting cells in the Substantia Nigra (of the Basal Ganglia)
Result: Insufficient Dopamine production/secretion
Sx: •motor deficits; difficulty initiation movement, poor motor control, spasticity & tremors
•Postural instability
•Dementia, loss of memory, mood disorders
Tx: L-DOPA (Levodopa) + Carbidopa (DOPA Decarboxylase inhibitor in the peripheral tissues)
Dx:
Keywords:

Question 3

Pheochromocytoma

Answer 3

Cause: Adrenal Medulla tumor > hypersecretion of catecholamines (epi. and nore.)
Sx: Headaches, sweating, tachychardia and elevated blood pressure, intrense anxiety
Dx: Diagnosis is by analysis of urinary VMA and catecholamines over a 24 hour period.

Question 4

Carcinoid Syndrome

Answer 4

Cause: Pathological increase in Serotonin production into the blood as 5-HIAA; due to a tumor of APUD cells of the GIT
Result:
Sx: Cutaneous flushing (& sometimes sweating), GIT Hypermobility > diahrrea, bronchospasms
Dx: Diagnosis: Increase 5-HIAA (5-Hydroxyindole Acetic Acid) in the urine