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3rd Year > Biochem > Flashcards

Biochem Flashcards

1
Q

X-linked adrenoleukodystrophy

A

a peroxisomal disorder (type of LSD)

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2
Q

clinical features of LSD

A

coarse facial features
hepatosplenomegaly
neurological problems (learning difficulties, seizures, hearing loss)
claw hands

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3
Q

acute type of toxic IMD

A

urea cycle defect

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4
Q

OTC deficiency and what builds up

A

leads to an acute buildup of ammonia and carbomyl phosphate.
The latter is converted to orotic acid –> in urine
The former causes hyperammonaemia

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5
Q

Symptoms of hyperammonaemia

A

Vomiting seizures
Tachypnoea
Lethargy
Encephalopathy

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6
Q

OTC inheritance

A

X-linked

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7
Q

Chronic form of toxic IMD

A

Phenyloketonuria

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8
Q

PKU mutation

A

AR mutation of phenylalanine hydroxylase (so it doesn’t work/ can’t bind to cofactor BH4)

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9
Q

PKU buildup and symptoms

A

Buildup of phenylalanine = neurotoxic –> learning difficulties and seizures
Decreased amounts of tyrosine –> less neurotrasmitter

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10
Q

PKU treatment

A

low protein diet and phenylalanine-free protein supplements

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11
Q

management of acute hyperammonaemia

A

stop protein intake
high glucose infusion to stop protein catabolism
give arginine to drive urea cycle
promote ammonia removal by giving sodium benzoate (chelation) and haemofiltration

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12
Q

Long term management of child with urea cycle defect

A

low protein diet
long term benzoate
arginine and citrulline supplementation
Definitive treatment = transplant

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13
Q

MCAD deficiency defect

A

AR mutation of enzyme that breaks down C6-C12 fatty acid chain lengths is broken

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14
Q

buildup in MCADD

A

C8 is the most common which when bound to carnitine is called octanoyl carnitine

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15
Q

test to confirm MCADD

A

urine sample for octanoyl carnitine

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16
Q

management of MCADD crisis

A

high dose glucose and IV carnitine

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17
Q

chronic management of MCADD

A 
avoid fasting (prevents you going into fat oxidation)
low fat, high carb diet
oral carnitine if deficient
18
Q

how do we check if ovulation has occurred

A

progesterone rise

19
Q

how to know if you are anovulatory

A

2 tests in consecutive months with no progesterone rise after menses

20
Q

key test in primary ovarian failure

A

FSH

21
Q

what controls prolactin secretion from pituitary

A

inhibitory control of dopamine

TRH can also stimulate it in 1’ hypothyroidism

22
Q

prevalence of PCOS amongst anovulatory women

A

90%

23
Q

LH:FSH in PCOS

A

> 2.5

24
Q

when do we test for inhibin in the lab

A

when we suspect a granulosa cell tumour of the testes (very rare)

25
Q

% of glycosuria in pregnant women

A

15% because the renal glucose threshold changes

26
Q

gold standard test for gestational diabetes

A

OGTT

27
Q

physiological changes in GH excess

A

repro - loss of gonadotrophs
cardio - megaly, hypertension
GI - polyps and insulin resistance
renal - calculi

28
Q

mecasermin + friend?

A

IGF1 analogue for laron type dwarfism

friend is a IGFBP3 analogue too which is sometimes given

29
Q

stages of AKI

A 
1 = 1.5-2x
2 = 2-3x
3 = 3+x

increase in creatinine from baseline

30
Q

fanconi syndrome

A 
Fanconi syndrome describes a generalised disorder of renal tubular transport in the proximal convoluted tubule resulting in:
type 2 (proximal) renal tubular acidosis
polyuria
aminoaciduria
glycosuria
phosphaturia
osteomalacia
Causes
cystinosis (most common cause in children)
Sjogren's syndrome
multiple myeloma
nephrotic syndrome
Wilson's disease
31
Q

symptoms of hypercalcaemi

A

bones, stones, groans, moans

shortened QT

32
Q

symptoms of hypocalcaemia

A

paraesthesia
prolonged QT
cataracts
brittle hair and nails

33
Q

FHH

A

familial hypocalciuric hypercalcamia
looks like primary hyperparathyroidism
mutation in Ca sensing receptor gene so the set point for calcium is just too high

34
Q

acute pancreatitis and calcium

A

can cause hypocalcaemia because calcium is used in the activation of the enzymes so it gets used up in all the autodigestion that occurs

35
Q

best enzyme for re-infarction

A

CKMB

36
Q

plasma osmolarity

A

2(Na) + glucose + urea

37
Q

urine osmolarity

A

most concentrated = 1200 mmol/kg

most dilute = 50 mmol/Kg

38
Q

treatment for cranial DI

A

nasal desmopressin

39
Q

gold standard test for looking at protein in urine

A

ACR

40
Q

what are the 3 negative acute phase proteins

A

albumin
transferrin
apolipoproteins (hence why your cholesterol drops by 30% after an MI)

3rd Year (9 decks)

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