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L15 Inborn errors of metabolism

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Inborn errors of metabolism
rare genetic (inherited) disorders in which the body cannot properly turn food into energy; usually enzyme deficiencies
example of toxin accumulation: accumulate in patients with defects in haem synthesis
example of toxin accumulation: accumulates in patients with urea cycle defects
acute porphyria
severe abdo pain; pain in chest, legs or back; constipation or diarrhoea; vomiting; insomnia; palpitations; hypertension; anxiety or restlessness; seizures; mental changes; breathing problems; muscle pain/tingling/weakness/paralysis; red/brown urine
photosensitive porphyria
sensitivity to sun/light; sudden painful erythema and oedema; blisters that take weeks to heal; itching; fragile skin; increased hair growth; red/brown urine
energy deficiency
example of _____ _______ mechanism: defects of fatty acid oxidation prevents adequate acetyl CoA generation; acute presentations of hypoglycaemia or collapse; treated by avoiding fat metabolism dependence (i.e. fasting)
androgen insensitivity syndrome
example of defective receptors due to deficiency of metabolite/structural compound: patients are genetically male but lack male characteristics; healthy female phenotype; partial defect results in ambiguous genitalia; presentation: primary amenorrhoea, infertility; usually need surgical resection of residual gonads
clinical heterogeneity
genetic variability of lesions, most disorders are multi-allelic; variability of other aspects/components of metabolism; environment
Basic ______ metabolic screen: spot tests, organic acids, amino acids, sugar chromatography, oligosaccharides/sialic acids, mucopolysaccharides
disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites; Sequelae: mental retardation, marfinoid habits, ectopia lentiis, osteoporosis, thromboembolism