15 - inborn errors of metabolism Flashcards
1
Q
Hyperammonia clinical presentation
A
Lethargy Poor feeding Vomiting Tachypnoea Convulsions Coma Death
2
Q
Acute porphyria clinical presentation
A
severe ab pain / chest / legs / back pain constipation / diarrhoea vomiting insomnia palpitations high blood pressure anxiety / restlessness seizures mental changes breathing problems muscle pain/tingling/weakness/paralysis red or brown urine
3
Q
Photosensitive porphyria
A
Sensitivity to the sun / artificial light Sudden painful erythema and oedema Blisters that weeks to heal Itching Fragile skin Increased hair growth Red or brown urine
4
Q
androgen insensitivity syndrome
A
Healthy female phenotype: normal breast development
Male phenotype: absent pubic hair
Partial defect results in ambiguous genitalia
5
Q
androgen insensitivity syndrome clinical presentation
A
1° amenorrhoea, infertility
6
Q
basic urine metabolic screen at leeds tests for
A
spot tests organic acids amino acids sugar chromatography oligosaccharides/sialic acids mucopolysaccharides
7
Q
neural tube defects pre natal screening test
A
maternal serum and amniotic fluid AFP
USS at 16 weeks
8
Q
down syndrome pre-natal screening tests
A
1st trimester: PAPA, HCG and nuchal translucency
2nd: maternal serum ATP HCG, inhibin and estriol. Test on the ascent: free foetal DNA
