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Pediatrics > Metabolic Disorders > Flashcards

Metabolic Disorders Flashcards

(28 cards)

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1
Q

Alkaptnonuria

A

Homogentisic acid Oxidase

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2
Q

Anderson Disease

A

Branching enzyme

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3
Q

Canavan Disease

A

Aspartoacylase

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4
Q

Cori or Forbes Disease

A

Debrancher deficiency

amylo 1,6 glucosidase

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5
Q

Fabry Disease

A

α-Galactosidase

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6
Q

Fanconi Bickel syndrome

A

GLUT-2

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7
Q

Farber Disease

A

Ceramidase

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8
Q

Galactosemia

A

Galactose 1Phosphate Uridyl Transferase (GALT)
Epimerase
Galactokinase

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9
Q

Gaucher Disease

A

Glucocerebrosidase

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10
Q

GM1 gangliosidosis

A

β-galactosidase

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11
Q

Hartnup Disorder

A

Def Transport of Neutral Aminoacids

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12
Q

Hawkinsinuria

A

4-hydroxy phenyl pyruvate dehydrogenase (4-HPPD)

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13
Q

Heriditary Fructose intolerance

A

Aldolase B

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14
Q

Hers Disease

A

Liver Phosphorylase

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15
Q

Homocystinuria

A

Cystathionine β synthase

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16
Q

Hurler disease

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A

α-Iduronidase

17
Q

Krabbe disease

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A

Galactocerebrosidase

18
Q

Lesch Nyhan disease

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A

Hypoxanthine Guanine Phosphoribosyl Transferase (HPRT)

19
Q

Maple Syrup Urine disease

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A

Branched chain α-ketoacid dehydrogenase

20
Q

Mc ardle Disease

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A

MyoPhosphorylase

21
Q

Metachromatic Leucodystrophy

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A

Arylsulftase A

22
Q

Niemann Pick Disease

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A

Sphingomyelinase

23
Q

Oculocutaneous Albinism type 1

24
Q

Phenylketonuria

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A

Phenylalanine hydroxylase
or
Tetrahydrobiopterin

25
Pompe Disease
α-Glucosidase | acid maltase
26
Tauri disease
Phosphofructokinase
27
Tyrosinemia
Type 1 : Fumaryl acetoacetate hydrolase Type 2: Tyrosine aminotransferase Type 3 : 4-Hydroxy Phenyl Pyruvate dioxygenase
28
Von Gierke disease
Glucose 6 Phosphate

Pediatrics (14 decks)

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