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All FMS diseases > NAM diseases > Flashcards

NAM diseases Flashcards

1
Q

what is von gierkes

A

autosomal recessive

effects glucose-6-phosphate, causes enlarged liver and hypoglycemia

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2
Q

what is pompes

A

autosomal recessive

effects lysosomal glycosidase, causes muscle weakness and cardiac failure

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3
Q

what is mcArdles

A

autosomal recessive

effects glycogen phosphorylase and causes exercise intolerance

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4
Q

what is G6PD (Glucose-6-phosphate dehydrogenase)

A

deficiency is the commonest human enzyme deficiency. X-linked hereditary disorder, Asymptomatic, patients are predominantly male. Favism triggers haemolytic anemia in people with GP6DH deficiency (ingestion of fava beans)

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5
Q

what is marasmus

A

no odema, body weight less than 60%

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6
Q

what is kwashikor

A

odema, body weight between 60-80%

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7
Q

what is marasmic kwashikor

A

odema

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8
Q

what is copper overload

A

Wilson’s disease

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9
Q

what is Zinc deficiency

A

Acrodermatitis enteropathica

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10
Q

what is Copper deficiency

A

Menkes disease

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11
Q

what is Iron deficiency

A

Anaemia

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12
Q

what is Thiamin deficiency (B1)

A

Wernicke’s encephalopathy/Korsakoff’s psychosis/ beri-beri

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13
Q

what is Vitamin A deficiency

A

night blindness, keratinization of the cornea, blindness

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14
Q

what is Vitamin D deficiency

A

rickets in children, osteomalacia in adults

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15
Q

what is Vitamin E deficiency

A

haemolytic anaemia, muscular dystrophy

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16
Q

what is Vitamin C deficiency

A

scurvy, impaired wound healing, anaemia

17
Q

what is Vitamin B3 deficiency

A

pellagra, dermatitis, diarrhoea, dementia

18
Q

what is Folic acid deficiency

A

pernicious anaemia megaloblastic

19
Q

what is B12 deficiency

A

megaloblastic anaemia

20
Q

what is Hypertriglyceridaemia

A

high levels of chylomicrons or VLDL

21
Q

what is a defective LDL receptor

A

hypercholesterolaemia

high LDL

22
Q

what is lipoprotein lipase deficiency

A

high chylomicron and VLDL

23
Q

what is C-II Deficiency

A

high chylomicron and VLDL

24
Q

what is apoprotein defiency involved in uptake

A

high chylomicron and VLDL remenant

All FMS diseases (3 decks)

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