Conditions Flashcards
Which condition is characterised by a lack of Hex-A
Tay-Sachs
Which condition is characterised by a build up of Ganglioside GM2 in nerve cells
Tay-Sachs
Which condition is characterised by blindness, muscle rigidity, seizures, death before 4 years
Tay-Sachs
Which organelle does Tay-Sachs affect?
Lysosomes
Place in order of severity:
- Hurler-Scheie
- Hurler
- Scheie
Most severe: Hurler
Then: Hurler-Scheie
Least Severe: Scheie
Which condition is this?:
Progressive, severe developmental delay, severe respiratory disease, abnormal bone structure, death before 10 years
Hurler Syndrome
Which condition is this?:
Little or no intellectual defect, moderate respiratory disease, cardiovascular disease, death in teens and 20’s
Hurler-Scheie
Which condition is this?:
Normal intelligence, corneal clouding, joint stiffness, valvular heart disease, death in later decades
Scheie
Lack of which enzyme characterises Niemann-Pick disease?
Acid Sphingomyelinase (ASM)
Which condition is this?:
Build up of sphingomyelin causes necrosis
Niemann-Pick
Which condition is this?:
Hexosaminidase-A absent from lysosomes
Tay-Sachs
Which condition is this?:
Dislocation of the lenses in the eyes, near sightedness, abnormal blood clots, osteoporosis, learning disabilities, developmental problems
Homocystinuria
What enzyme is affected by Homocystinuria?
Cystathionine beta-synthase (CBS)
What role does cystathionine beta-synthase usually playh in the body?
Converts homocysteine to cystathionine
In patients with homocystinuria, what is produced instead of cystathionine?
Other amino acids, including methionine, plus toxic by-products that build up in the blood
Which of the following disorders causes severe mental developmental delay?
A) Scheie syndrome
B) Niemann-Pick disease
C) Hurler syndrome
D) Homocystinuria
C) Hurler syndrome
Which enzyme is missing in patients with Tarui disease?
Photofructinase (PFK)
Which disease results in Myoglobinuria? What symptoms will be present?
Tarui disease. Symptoms include rust-coloured urine, pain, muscle cramps
What chemical will be elevated in the blood of Tarui patients? Why?
Bilirubin - This is found in red blood cells but is released into the blood when deficiency in PFK leads to haemolysis of RBC’s
Lactic acidosis (build up of lactic acid) is characteristic of which condition?
Pyruvate dehydrogenase deficiency
What are the symptoms associated with pyruvate dehydrogenase deficiency?
Nausea, vomiting, sever respiratory problems, abnormal heartbeat, neurological disorders, delayed mental development, delayed motor development, mortality in childhood
Which condition means the iron in the redblood cells is ferric instead of ferrous?
Methemoglobinaemia.
Which is ferric and which is ferrous?
A) Fe2+
B) Fe3+
Fe2+ is ferrous
Fe3+ is ferric
(Fe3+ is bad news)
What is used to treat Methemoglobinaemia?
Methylene Blue
