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Deficiencies Flashcards

1
Q

alpha-galactosidase A deficiency

A

Fabry’s Disease

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2
Q

Glucocerebrosidase deficiency

A

Gaucher’s disease

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3
Q

Sphingomyelinase deficiency

A

Niemann-Pick Disease

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4
Q

Hexosaminidase A deficiency

A

Tay-Sachs Disease

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5
Q

Galactocerebrosidase deficiency

A

Krabbe’s Disease

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6
Q

Arylsulfatase A deficiency

A

Metachromatic Leukodystrophy

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7
Q

alpha-L-iduronidase deficiency

A

Hurler’s Syndrome

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8
Q

Iduronate Sulfatase deficiency

A

Hunter’s syndrome

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9
Q

Aldolase B deficiency

A

Fructose Intolerance

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10
Q

Fructokinase deficiency

A

Essential fructosuria

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11
Q

galactose-1-phosphate uridyltransferase deficiency

A

Classic Galactosemia

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12
Q

phenylalanine hydroxylase deficiency

A

Phenylketonuria

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13
Q

Homogentisic acid oxidase deficiency

A

Alkaptonuria

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14
Q

Tyrosinase deficiency or defective tyrosine transporters

A

Albinism

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15
Q

Cystathionine synthase deficiency

A

Homocystinuria

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16
Q

Homocysteine methyltransferase deficiency

A

Homocystinuria

17
Q

Defect of renal tubular amino acid transporter for cysteine, ornithine, lysine and arginine

A

Cystinuria

18
Q

alpha-ketoacid dehydrogenase deficiency

A

Maple Syrup Urine Disease

19
Q

Blocked degradation of branched amino acids (isoleucine, leucine, valine)

20
Q

defective neutral amino acid transporter

A

Hartnup disease

21
Q

Glucose-6-phosphatase deficiency

A

Von Gierke’s disease

22
Q

Lysosomal alpha-1,4-glucosidase deficiency

A

Pompe’s disease

23
Q

alpha-1,6-glucosidase deficiency

A

Cori’s Disease

24
Q

Skeletal muscle glycogen phosphorylase deficiency

A

McArdle’s disease

25
Q

Mutation in microsomal triglyceride transfer protein (B-48 and B-100 deficiency)

A

Abetalipoproteinemia

Biochem Deficiencies (3 decks)

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