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Step 1 > Genetic Disorders > Flashcards

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?

A

Liver

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
Q

What is a rare complication of galactosemia in neonates?

A

E. Coli sepsis

26
Q

What enzyme is deficient in galactokinase deficiency? And what accumulates?

A

Galactokinase

Galactose and galactitol

27
Q

What is more benign classic galactosemia or galactokinase deficiency?

A

Galactokinase deficiency

28
Q

Diagnosis?

Infant with cataracts

A
29
Q

What is the inheritance pattern of ornithine transcarbamylase deficiency?

A

X linked recessive

30
Q

What is elevated in ornithine transcarbamylase deficiency? And what is defective?

A

Ammonia

urea cycle

31
Q

Diagnosis?

-hyper-ammonia symptoms ( lethargy, asterisks)
- LOW BUN,
elevated carbamoyl phosphate and orotic acid

A
32
Q

What is the defect in phenylketonuria? What accumulates

A

Metabolizing phenalyanine to tyrosine
Phenylketones in urine
Tyrosine is decreased

33
Q

What enzyme is defective in PKU?

A

Phenanylaine hydroxylase or it’s cofactor BH4

34
Q

What is the treatment?

A

Tyrosine becomes ESSENTIAL in diet

35
Q

Diagnosis?

Infant 2-3 days after birth

  • seizures, cognitive delays, failure to thrive,
  • light complexion
  • eczema,
  • musty body order
A

PKU

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