In-born errors of metabolism Flashcards
Newborn blood spot screening involves taking a blood sample to find out if your baby has 1 of 9 rare but serious health conditions
what are the conditions
learn all these conditions so you know H
Sickle cell disease
Cystic Fibrosis
Congenital hypothyroidism
new born blood spot test screens for 6 inherited metabolic disease (inborn errors of metabolism, IEM):
Phenylketonuria (PKU)
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
Maple syrup urine disease (MSUD)
Isovaleric acidaemia (IVA)
Glutaric aciduria type 1 (GA1)
Homocystinuria (pyridoxine unresponsive) (HCU)
Most IEMs are caused by mutations in single genes that code for enzymes that facilitate conversion of various substrates into products. In general the pathology of the diseases occur due to accumulation of substances which are toxic or interfere with normal function. Alternatively they may occur due a reduced ability to synthesise essential compounds. IEMs are now often referred to as congenital metabolic diseases or inherited metabolic disorders.
500 different IEM’s resulting from metabolic pathway not working correctly and they can be largely classified in the following groups:
1) Carbohydrate disorders
2) Amino acid disorders
3) Lipid disorders
4) Organic acid disorders
5) Urea Cycle disorders
6) Energy production defects
7) Heavy metal transport defects
what is whole genome sequencing
what advantages on newborn
ethical issues with this
what else could be done instead
analysis of entire genomic DNA sequence of a cell at a intel time providing most comprehension chacetrization of the genome- by next generation sequencing
is done when a rare genetic disorder is suspected in a seriously ill baby
benefits of WGS - in addition to the 9 conditions screened fro in new born screening programme, WGS of newborns means many more rare and serious disease could be diagnosed earlier so lead to better prognosis however the test must be precise and there shoudlbe evidence fro the screen and won’t cause ill health or death
