Image by U.S. Air Force photo/Staff Sgt Eric T. Sheler - USAF Photographic Archives, Public Domain
Blood spot screening takes place between days 5-7 for all infants. As of January 2015 9 conditions are tested for:
> Phenylketonuria (PKU) > Congenital Hypothyroidism > Sickle Cell Disease
- Unable to metabolise - Affects 1 in 3000 babies - Affects 1 in 2000 babies
phenylalanine - Not usually inherited - Well at birth due to HbF
- Untreated leads to LD, - If untreated leads to mental - Affected children require
behavioural problems retardation Pen V prophylaxis and f/u
- Dietary management - Thyroxine replacement - May detect B thalassaemia
> Medium Chain Acyl-CoA > Cystic Fibrosis > Isovaleric Acidaemia*
Dehydrogenase Def (MCADD) - Affects 1 in 2500 babies - Autosomal recessive disorder
- Affects 1 in 10,000 babies - Testing is for Immunoreactive - Unable to metabolise leucine
- Autosomal recessive condition Trypsin (IRT) amino acid
- Inability to metabolise type of fat - Multi-system disorder causing
- Can become acutely unwell when recurrent lung infection and mal-
starved or stressed - diagnosis allows absorption with FTT
education and planning - MDT approach to management
> Maple Syrup Urine Disease > Homocystinuria (HCU)* > Glutaric Aciduria type 1(GA1) *
(MSUD)* - Autosomal recessive disorder - Autosomal recessive disorder
- Autosomal recessive disorder - Unable to metabolise homo- - Unable to metabolise lysine
- Unable to metabolise leucine, systeine amino acid and tryptophan amino acids
isoleucine and valine AAs. - Pyridoxine unresponsive
*Condition added from January 2015
Additional information is available via the Public Health England website