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3. Metabolism > Sugar > Flashcards

Sugar Flashcards

1
Q

[Met/Sugar/Gal]

Three types of galactosemia?

A

Classic galactosemia (Enzyme activity 0 or barely detectable)
Clinical variant galactosemia (Mostly < 10-15%, around 1%)
Duarte variant galactosemia (No difference than general population)

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2
Q

[Met/Sugar/Gal]

Presentation for untreated infants with classic galactosemia? (4)

A
  1. Feeding problems, failure to thrive
  2. Hepatocellular damage
  3. Bleeding
  4. E coli sepsis
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3
Q

[Met/Sugar/Gal]

Complications for treated galactosemia? (2)

A
  1. Developmental delays, speech problems (termed childhood apraxia of speech and dysarthria), abnormalities of motor function
  2. Hypergonadatropic hypogonadism or premature ovarian insufficiency (POI) (almost all female)
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4
Q

[Met/Sugar/Gal]

Major differences in clinical variant galactosemia compared to classic galactosemia?
- Commonly affected population
- Time of diagnosis
- Complications

A
  1. African Americans and native Africans in South Africa
  2. Not easily detected by newborn screening (hypergalactosemia is not as high)
  3. No long-term complications such as neurologic or premature ovarian insufficiency
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5
Q

[Met/Sugar/Gal]

Classic galactosemia

Enzyme defect?
Causal gene?

A

Galactose-1-phosphate uridylyltranserase

GALT

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6
Q

[Met/Sugar/Gal]

Biochemical finding in classic galactosemia and clinical variant galactosemia?

A

Elevated erythrocyte galactose-1-phosphate concentration

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7
Q

[Met/Sugar/Gal]

Usual erythrocyte galactose-1-phosphate concentration in classic galactosemia?

A

Erythrocyte galactose-1-phosphate is usually >10 mg/dL

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8
Q

[Met/Sugar/Gal]

Biochemical tests in newborn screening for galactosemia? (2)

A

Erythrocyte GALT enzyme activity (Most states)
Blood total galactose level (Some, might miss clinical variant galactosemia)

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9
Q

[Met/Sugar/Gal]

Acute management for galactosemia?

A

Immediate galactose restriction upon screening positive

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10
Q

[Met/Sugar/Gal]

Chronic management for galactosemia except galactose-free diet? (3)

A

Developmental assessment
Hormonal replacement for possible primary ovarian failure for puberty
Supplement of calcium, vitamin D, and vitamin K

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11
Q

[Met/Sugar/Gal]

Three enzyme deficiencies in galactose metabolism?

A
  1. Galactosemia (Galactose-1-phosphate uridyltransferase (GALT))
  2. Galactokinase deficiency
  3. Uridine diphosphate (UDP) -galactose-4-epimerase (GALE) deficiency
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12
Q

[Met/Sugar/Gal]

Characteristics of galactokinase deficiency? (2)

A

Cataracts
Asymptomatic

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13
Q

[Met/Sugar/Gal]

Characteristics of generalized form of Uridine diphosphate (UDP) -galactose-4-epimerase (GALE) deficiency? (2)

A

Similar to galactosemia
Additional hypotonia and deafness

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14
Q

[Met/Sugar/Fructosuria]

Characteristics of Benign Fructosuria? (3)
- Cause
- Presentation
- Implication

A
  1. Deficiency of fructokinase
  2. No clinical manifestations
  3. Incidental finding
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15
Q

[Met/Sugar/HFI]

Enzyme defect in hereditary fructose intolerance?

A

Fructose 1-phosphate aldolase

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16
Q

[Met/Sugar/HFI]

Dietary exposure to trigger hereditary fructose intolerance? (3)

A

Fructose
Sucrose
Sorbitol

17
Q

[Met/Sugar/HFI]

Biochemical findings of untreated Hereditary Fructose Intolerance? (6)
- Glucose, organic acid, electrolytes (3), protein

A

Hypoglycemia
Lactic acidemia
Hypermagnesemia
Hypophosphatemia
Hyperuricemia
Hyperalaninemia

18
Q

[Met/Sugar/HFI]

Clinical findings of untreated Hereditary Fructose Intolerance? (3)

A

Upon exposure, usually after weaning of breast feeding
Nausea, vomiting, and abdominal distress
Chronic growth restriction / failure to thrive

19
Q

[Met/Sugar/HFI]

Causal gene for Hereditary Fructose Intolerance?

A

ALDOB (aldolase B)

20
Q

[Met/Sugar/HFI]

Diagnostic test for Hereditary Fructose Intolerance? (2)

A

Mostly from genetic testing ALDOB
Rarely deficient hepatic fructose 1-phosphate aldolase (aldolase B) activity on liver biopsy

3. Metabolism (14 decks)

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