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Metabolic Disorders Flashcards

1
Q

What enzyme is deficient in essential fructosuria?

A

fructokinase

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2
Q

Symptoms of essential fructosuria

A

typically benign

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3
Q

What enzyme is deficient in hereditary fructose intolerance?

A

aldolase B

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4
Q

What are the symptoms of hereditary fructose intolerance?

A

hypoglycemia, vomiting after fructose intake, hepatomegaly, elevated uric acid, growth abnormalities

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5
Q

How is hereditary fructose-1,6-biphosphatase deficiency treated?

A

by eating consistently and avoiding fasts

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6
Q

What are the symptoms of hereditary fructose-1,6-biphosphatase deficiency?

A

severe hypoglycemia, hyperventilation, ketosis, lactic acidosis triggered by fasting

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7
Q

For which fructose metabolic disorder is fasting an issue?

A

hereditary fructose-1,6-biphosphatase deficiency

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8
Q

Ingesting lactose is likely to cause problems for those with what group of metabolic disorders?

A

galactosemia

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9
Q

What enzyme deficiencies result in classic galactosemia?

A
  • galactose-1-phosphate uridyl transferase

- galactokinase

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10
Q

How does classic galactosemia present?

A
  • severe lactose intolerance
  • failure to thrive
  • vomitting
  • blindness
  • liver damage
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11
Q

How are galactosemias treated?

A

with avoidance of galactose

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12
Q

A lactose intolerance arises from what enzyme deficiency?

A

lactase

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13
Q

What are the symptoms of lactose intolerance?

A

gas, abdominal cramping with consumption of lactose

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14
Q

What is the problem with a glucose-6-phosphate dehydrogenase deficiency?

A

prevents entry into the pentose phosphate pathway

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15
Q

What are the symptoms of a glucose-6-phosphate dehydrogenase deficiency?

A

hemolytic anemia when taking drugs or eating fava beans which will also inhibit PPP

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16
Q

What are the symptoms of I-cell disease?

A

psychomotor retardation and early death

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17
Q

What enzyme deficiency results in PKU?

A

lack of phenylalanine hydroxylase

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18
Q

Hartnup’s disease results from what deficiency?

A
  • loss of intestinal transporter needed for neutral amino acid uptake
  • tryptophan deficiency
  • niacin (B3) deficiency
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19
Q

The ultimate problem in Hartnup’s disease is what deficiency?

A

niacin (B3) deficiency

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20
Q

What deficiency results in branched chain ketoaciduria?

A

ketoacid dehydrogenase

21
Q

What does ketoacid dehydrogenase do?

A

catalyze the irreversible step in branched-chain AA catabolism

22
Q

Maple syrup disease is also known as what?

A

branched chain ketoaciduria

23
Q

What are the symptoms of branched chain ketoaciduria?

A

sweet smwlling bodily secretions, vomiting, neonatal death

24
Q

What deficiency results in homocystinuria?

A

cystathione synthesis

25
Q

What does cystathione synthesis do?

A

converts homocysteine to cysteine

26
Q

Methionine is converted to what?

A

cysteine

27
Q

What are the symptoms of homocystinuria?

A

bone loss and mental retardation

28
Q

What is the Guthrie test?

A

a test used to evaluate infants for homocystinuria

29
Q

What is alkaptonuria?

A

a deficiency in acid oxidase, limiting tyrosine and phenylalanine processing

30
Q

What AA is affected in those with alkaptonuria?

A

their ability to produce tyrosine is affected

31
Q

What are the symptoms of alkaptonuria?

A

dark urine and osteoarthritis

32
Q

Why does albinism result?

A

lack of tyrosine in melanocytes

33
Q

What group of diseases includes Tay-Sachs, Fabry’s, Gaucher’s, Niemann-Pick, and Farber’s disease?

A

sphingolipidoses (lipid storage diseases)

34
Q

Most sphingolipidoses are inherited in what pattern?

A

autosomal recessive

35
Q

Which sphingolipidoses is not inherited in an AR manner?

A

Fabry’s disease is inherited in an XR fashion

36
Q

What deficiency results in Tay-Sachs disease?

A

hexosaminidase A

37
Q

Symptoms of Tay-Sachs Disease

A

neurodegeneration, developmental delay, cherry red spot on macula

38
Q

A cherry red spot on one’s macula is indicative of what metabolic disorder?

A

Tay Sachs or Niemann-Pick

39
Q

Fabry’s disease is due to what deficiency?

A

galactosidase

40
Q

Fabry’s disease has what symptoms?

A
  • peripheral neuropathy
  • CV disease
  • renal disease
41
Q

How is Fabry’s disease treated?

A

with enzyme replacement

42
Q

What deficiency causes Gaucher’s disease?

A

B-glucocerebrosidase

43
Q

What are the symptoms of Gaucher’s disease?

A
  • hepatosplenomegaly
  • aseptic necrosis of the femur
  • bone crises
44
Q

What deficiency results in Niemann-Pick disease?

A

sphingomyelinase

45
Q

What are the symptoms of Niemann-Pick disease?

A
  • cherry red spot on macula

- hepatosplenomegaly

46
Q

Hepatosplenomegaly is characteristic of which sphingoliposes?

A

Gauchers and Niemann-Pick

47
Q

What deficiency results in Farber’s disease?

A

ceremidase

48
Q

What are the symptoms of Farber’s diseases?

A
  • impaired motor function
  • shortening of muscles and tendons around joints
  • arthritis
49
Q

How is Farber’s diseases treated?

A

bone marrow transplant and corticosteroids

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