In born errors in metabolism Flashcards
when do inborn errors in metabolism present
childhood.
mutation can result in
Protein function not present due to the destruction of its structure.
Over/ under expressed gene so too much or too little protein is made.
Blockage of any metabolic pathway can result in a disorder.
what molecules are co factors
vitamins
what is used to convert a reactant to it’s product
enzymes.
what molecule accumulates in a patient with urea cycle defects
ammonia
what are the clinical effects of hyperammonaemia toxicity
lethargy, poor feeding, vommiting, tahcypnoea, convulsions, coma and death.
porphyrins accumulate in porphyries what are the possible acute signs of acute porphyria.
Severe abdominal pain Pain in your chest, legs or back Constipation or diarrhoea Vomiting Insomnia Heartbeat you can feel (palpitations) High blood pressure Anxiety or restlessness Seizures Mental changes Breathing problems Muscle pain/tingling/weakness/paralysis Red or brown urine
signs of photosensitive porphyria
Sensitivity to the sun/artificial light Sudden painful erythema and oedema Blisters that take weeks to heal Itching Fragile skin Increased hair growth Red or brown urine
why does energy deficiency cause crisis presentations in defects of fatty acid oxidation
- Fats- used when energy is compromised from glucose e.g. fasting.
- Cannot see fatty acid defects unless you get ill e.g. viral infection
what effect does inborn errors in metabolism have if they cause a non functioning androgen receptors
Androgens are male sex hormones which typically bind to specific receptors.
male genotype but not phenotype.
what is the phenotype of a patient with inborn errors in metabolism of androgen receptors.
healthy female phenotype normal breast development absent pubic hair, genetic male
what is the presentation of a patient with inborn errors in metabolism of androgen receptors.
primary amenorrhoea, infertility
do the same in born errors in metabolism have different penetrance
Yes
how are in born errors in metabolism diagnosed
Pre-symptomatic screening
whole population.
Investigation of symptomatic individuals.
• test body fluids for abnormal metabolites
• measure enzyme activities
• histochemical / immunochemical staining
• DNA analysis
Basic urine metabolic screen • Spot tests • Organic acids • Amino acids • Sugar Chromatography • Oligosaccharides/Sialic Acids • Mucopolysaccharides
define in born errors in metabolism
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products)
