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MTAP 2 - CC1 (Trans) > Inborn errors of Carbohydrate Metabolism > Flashcards

Inborn errors of Carbohydrate Metabolism Flashcards

1
Q

Congenital deficiency of one of three enzymes involved in galactose
▪ Galactose-1-phosphateuridyltransferase
▪ Galactokinase
▪ Uridine diphosphate galactose-4-epimerase (GALE)

A

Galactosemia

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2
Q

Diagnostic test for galactosemia

A

Erythrocyte galactose-1-phosphate uridyl transferase

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3
Q

fructokinase deficiency

A

Essential Fructosuria

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4
Q
  • Fructose-1,6-biphosphate aldolase B defect -
  • Only defect
A

Hereditary Fructose Intolerance

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5
Q

Absence of Fructose-1,6-biphosphate

A

Fructose-1,6-biphosphate Deficiency

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6
Q
  • Aka Glycogenoses
  • Result of inherited deficiencies of enzymes that control the synthesis or breakdown of glycogen
A

Glycogen Storage Disease

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7
Q
  • Aka Glycogenoses
  • Result of inherited deficiencies of enzymes that control the synthesis or breakdown of glycogen
A

Glycogen Storage Disease

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8
Q

0

A

Glycogen synthase

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9
Q

Ia (Von Gierke) *associated w/
hyperlipidemia

A

Glucose-6-phosphatase

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10
Q

Ib

A

Glucose-6-phosphatase translocase

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11
Q

II (Pompe)

A

Lysosomal acid alpha glucosidase

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12
Q

IIIa (Cori/Forbes)

A

Glycogen debranching enzyme

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13
Q

IIIb

A

Glycogen debranching enzyme

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14
Q

IV (Andersen)

A

Glycogen branching enzyme

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15
Q

V (McArdle)

A

Muscle phosphorylase

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16
Q

VI (Hers)

A

Glycogen phosphorylase

17
Q

VII (Tarui)

A

Phosphofructokinase

18
Q

IXa

A

Phosphorylase kinase

19
Q

IXb

A

Phosphorylase

20
Q

XI (Fanconi-Bickle)

A

Glucose transporter 2

21
Q
  • GSDs that affect the liver, which are the ff:
    ▪ I,III,IV,VI,andIX
  • Manifests hepatomegaly, hypoglycemia, and growth retardation
  • Liver damage
A

Hepatic Glycogenoses

22
Q
  • Manifests exercise intolerance, muscle cramps, fatigue, and weakness
A

Muscle Glycogenoses

23
Q

Muscle glycogenoses shows increase in the following enzymes (found in skeletal muscle
cells)

A

CK
AST
LD
Aldolase

MTAP 2 - CC1 (Trans) (7 decks)

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