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MRCP 1 > Inherited Metabolic Disorders > Flashcards

Inherited Metabolic Disorders Flashcards

1
Q

Von Gierke’s disease: features

A

Hypoglycaemia, lactic acidosis and hepatomegaly

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2
Q

Von Gierke’s disease: accumulation

A

Hepatic glycogen accumulation

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3
Q

Pompe’s disease: features

A

Cardiomegaly

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4
Q

Pompe’s disease: accumulation

A

cardiac, hepatic and muscle glycogen accumulation

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5
Q

Cori disease: features

A

muscle hypotonia

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6
Q

Cori disease: accumulation

A

hepatic and cardiac glycogen accumulation

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7
Q

McArdle’s disease: features

A

Myalgia, myoglobinuria with exercise

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8
Q

McArdle’s disease: accumulation

A

skeletal muscle glycogen accumulation

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9
Q

Gaucher’s disease

A

Lipid storage disorder

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10
Q

Gaucher’s disease: accumulation

A

Glucocerebrosidase accumulates in brain, liver and spleen

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11
Q

Gaucher’s disease: features

A

HSM, aseptic necrosis of femur

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12
Q

Tay-Sachs disease: accumulation

A

GM2 ganglioside within lysosomes

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13
Q

Tay-Sachs disease: features

A

Developmental delay, cherry red spot on macula

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14
Q

Niemann-Pick disease: features

A

HSM, cherry red spot on macular

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15
Q

Fabry disease: features

A

Angiokeratomas, peripheral neuropathy, renal failure

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16
Q

Krabbe disease: features

A

Peripheral neuropathy, optic atrophy, globoid cells

17
Q

Metachromatic leukodystrophy

A

Demyelination of CNs and PNS

18
Q

Hurler syndrome: features

A

Gargoylism, HSM, corneal clouding

19
Q

Hunter syndrome: features

A

Coarse facial features, behavioural problems,

MRCP 1 (16 decks)

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