Genetic Disorders Flashcards

1
Q

What enzyme is defective in albinism

A

Tyrosinase

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2
Q

What is function of Tyrosinase

A

Convert DOPA to melanin

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3
Q

What is the difference between between vitiligo and albinism?

A

Albinism the number of melanocytes is not affected. In vitiligo it is

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4
Q

Diagnosis?

  • light skin/ hair
  • ocular defects:
  • strabismus and nystagmus
A

Albinism

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5
Q

Inheritance pattern of pyruvate dehydrogenase deficiency ?

A

X linked recessive

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6
Q

What is the function of pyruvate dehydrogenase

A

Convert pyruvate into acetyl-CoA to participate in TCA cycle

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7
Q

Diagnosis?

  • neurological defects
  • elevation of lactate and alanine
  • lactic acidosis!
A

Pyruvate dehydrogenase deficiency

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8
Q

Treatment of pyruvate dehydrogenase deficiency?

A

Consume high fat diet, ketogenic focusing on consuming a lot of lysine and leucine (ketogenic a.a)

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9
Q

What is the function of pyruvate kinase?

A

ATP depletion especially in RBCs because they have no mitochondria (exclusively rely on glycolysis)

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10
Q

Diagnosis?
Newborn w/
- extravascular hemolysis (only in spleen)
- increased indirect bilirubin (jaundice, itchy skin)
- increased 2,3 BPG —> right shift
- Presence of burr cells
-negative osmotic fragility test

A

Pyruvate kinase deficiency

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11
Q

What is the function of G6PD?

A
  • crucial role in pentode phosphate pathway

- generates NADPH

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12
Q

Who is G6PD deficiency prevalent in ?

A
  • African Americans
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13
Q

Inheritance pattern of G6PD deficiency?

A

X linked recessive

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14
Q

What enzyme deficiency decreases GSH?

A

Pyruvate kinase. GSH is an antioxidant.

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15
Q

Blood smear presents

  • Heinz bodies
  • bite cells

After patient takes anti microbial drug

A

G6PD deficiency

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16
Q

What is the enzyme that is defective in essential fructosuria?

A

Frucktokinase

17
Q

Which condition is benign?
Essential fructosuria
Hereditary fructose intolerance

A

Essential fructosuria because fructose is not trapped and can exit cells freely in urine

18
Q

What enzyme is defective in hereditary fructose intolerance?

A

Aldolase B —> ACCUMULATION of fructose -1-phosphate

19
Q
Diagnosis?
- hypoglycemia 
Baby after breastfeeding
- vomiting
- tremors, seizures, lethargy
A

Hereditary fructose intolerance

20
Q

What organ does hereditary fructose intolerance damage?

21
Q

What accumulates in galactosemia?

A

Galactose and galactose-1-phosphate

22
Q

What enzyme is defective?

A

UDP Transferase

23
Q

What is produced during classic galactosemia that is not physiologically normal?

A

Galactiol alcohol

24
Q

Diagnosis?
Infant while breastfeeding
Presents w/ hepatomegaly, jaundice, failure to thrive, infantile cataracts (can’t visually track objects/ develop social smile), intellectual disability

A

Classic galactosemia

25
What is a rare complication of galactosemia in neonates?
E. Coli sepsis
26
What enzyme is deficient in galactokinase deficiency? And what accumulates?
Galactokinase Galactose and galactitol
27
What is more benign classic galactosemia or galactokinase deficiency?
Galactokinase deficiency
28
Diagnosis? | Infant with cataracts
29
What is the inheritance pattern of ornithine transcarbamylase deficiency?
X linked recessive
30
What is elevated in ornithine transcarbamylase deficiency? And what is defective?
Ammonia | urea cycle
31
Diagnosis? -hyper-ammonia symptoms ( lethargy, asterisks) - LOW BUN, elevated carbamoyl phosphate and orotic acid
32
What is the defect in phenylketonuria? What accumulates
Metabolizing phenalyanine to tyrosine Phenylketones in urine Tyrosine is decreased
33
What enzyme is defective in PKU?
Phenanylaine hydroxylase or it’s cofactor BH4
34
What is the treatment?
Tyrosine becomes ESSENTIAL in diet
35
Diagnosis? Infant 2-3 days after birth - seizures, cognitive delays, failure to thrive, - light complexion - eczema, - musty body order
PKU