Clinical Biochemistry 02 - 06 - Purine Metabolism

Front 1

Acute types of porphyrias?

Back 1

1. ALA dehydrogenase deficiency (Doss porphyria)
2. Acute intermittent porphyria (AIP)
3. Hereditary coporphyria (HCP)
4. Variagate porphyria (VP)

Front 2

Typical signs of acute porphyrias?

Back 2

1. Abdominal pain, nausea, vomiting, constipation
2. Seizures, headaches, difficulty concentrating, personality changes
3. Weakness, aching muscles and joints, unsteady gait, poor coordination, numbness and tingling of arms and legs,
4. Fluid retention rapid HR, increased BP
5. Increased sweating, intermittent fever

Front 3

Factors that may exacerbate or trigger AIP attacks?

Back 3

1. Phenobarbitals
2. Alcohol
3. Fasting
4. Sulfonamides
5. Estrogens

Front 4

Typical symptoms of chronic porphyrias?

Back 4

1. Skin changes
2. "Port wine"-coloured urine

Front 5

Acute intermittent porphyria (AIP) can be classified into two categories. What are they?

Back 5

1. Hereditary (AD)
2. Secondary (heavy metal poisoning, drugs, malnutrition)

Front 6

A qualitative screening test for diagnosis of acute intermittent porphyria

Back 6

Watson-Schwartz test; dark urine after exposure to sunlight

Front 7

Definition of porphyria?

Back 7

A group of diseases in which cells in the liver or bone marrow fail one of the steps in heme synthesis due to inherited/acquired defects in one or more enzymes involved

Front 8

Definition of porphynuria?

Back 8

Disorders of porphyrin metabolism and excretion that are acquired from diseases, drugs, or chemicals with or without enzyme abnormalities (i.e., coprophyria)

Front 9

Definition of porphyrinopathy?

Back 9

Any disorder of porphyrin metabolism; inherited or acquired (i.e., fibromyalgia)

Front 10

Typical characteristics of porphyrias?

Back 10

1. AD; incomplete penetrance
2. Pan-ethnic
3. Rare