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W's MoD > Lect 15 - Inborn errors of metabolism > Flashcards

Lect 15 - Inborn errors of metabolism Flashcards

1
Q

what are the general outcomes of inborn errors of metabolism?

A

Accumulation of a toxin

Energy deficiency

Deficient production of essential metabolite / structural component

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2
Q

what accumulates in patients with urea cycle defects?

A

Ammonia

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3
Q

what is Porphyrin?

A

a molecule that is required in the pathway to produce haem?

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4
Q

what is raised in acute porphyria

A

PBG

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5
Q

what is raised in Photosensitive

porphyria

A

PROTOPORPHRIN

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6
Q

where do fats get metabolised?

A

in mitochondria

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7
Q

what do fats get broken down into?

A

acetyl CoA and then ketones.

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8
Q

what is to androgen insensitivity syndrome caused by?

A

Defective receptors

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9
Q

what are the symptoms of androgen insensitivity syndrome?

A

healthy female phenotype: normal breast development absent pubic hair. possible ambiguous genitalia

YET GENETIC MALE

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10
Q

how does androgen insensitivity syndrome present?

A

primary amenorrhoea, infertility

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11
Q

what causes the variations in presentation of patients with inborn errors of metabolism

A

Variability of other aspects / components of metabolism

Environment

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12
Q

how are IEM diagnosed

A

Pre-symptomatic screening

Investigation of symptomatic individuals

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13
Q

what Investigations of symptomatic individuals can be done?

A

test body fluids for abnormal metabolites

measure enzyme activities

histochemical / immunochemical staining

DNA analysis

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14
Q

what does the Leeds basic urine metabolic screen test for?

A 
Spot tests
Organic acids
Amino acids
Sugar Chromatography
Oligosaccharides/Sialic Acids
Mucopolysaccharides
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15
Q

What GCSE level science experiment can be used to find excess of particular amino acids in a sample?

A

Amino acid TLC

(Chromatography)

This is done with a more sophisticated automated machine, but principle is the same.

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16
Q

what causes Homocystinuria?

A

deficiency of CBS enzyme (Cystathionine

beta-synthase)

17
Q

what is CBS important in?

A

the final step of the metabolism of the amino acid Methionine into Cysteine.

18
Q

what metabolite will you have an excess of in Homocystinuria?

A

Homocysteine

19
Q

what are the Clinical Problems of Homocystinuria

A 
Mental retardation
Marfinoid habitus
Ectopia lentis
Osteoporosis
Thromboembolism
20
Q

what % of the general population have Hyperhomocystinaemia

A

5% - therefore significant in the amount of stroke/PVD/Coronary artery disease.

21
Q

why can inborn errors of metabolism end up messing up acid-base balance?

A

Small molecular weight organic acids are intermediates in most metabolic pathways

22
Q

what is the classic organic acidaemia?

A

defects in branched chain amino acid catabolism

W's MoD (18 decks)

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