monogenic diseases Flashcards
genetic screening: list two examples of inborn errors of metabolism currently included in UK national neonatal screening programmes, including clinical features and therapeutic management of each condition
1
Q
inborn errors of metabolism principle for UK national neonatal screening programme
A
one gene-one protein concept; defective proteins mainly enzymes; mostly autosomal recessive/X linked
2
Q
phenylketonuria: deficiency and clinical features
A
deficiency of phenylalanine hydroxylase; lack of melanin causingblond hair; eczema, seizures, retardation
3
Q
phenylketonuria: treatment
A
remove aspartame from diet, replace with protein supplements
4
Q
medium-chain acyl-CoA dehydrogenase (MCAD)
A
B-oxidation of FA, hypoglycaemia, vomiting, coma; avoid fasting
