The Institute for Quality and Efficiency in Health Care (IQWiG) was commissioned by the Federal Joint Committee (G-BA) to investigate whether screening for vitamin B12 deficiency and the diseases homocystinuria, propionic acidemia and methylmalonic aciduria should be included in the German extended newborn screening (ENS) program. After careful consideration of the comments on the preliminary report , the Institute has now concluded in the final report that the benefits outweigh the harms, at least in screening for vitamin B12 deficiency. The evidence from the available studies is insufficient to answer the question of whether this is also the case for the other three target diseases.
Metabolic diseases that cause irreversible damage Vitamin B12 and certain enzymes are essential for the breakdown of protein in the human body. If a pregnant woman cannot absorb vitamin B12, this is dangerous for the newborn because the human body cannot produce vitamins. It can also happen that the breakdown of protein in the newborn is blocked due to a lack of certain enzymes.
This is the case with the very rare congenital metabolic disorders homocystinuria, propionic acidemia and methylmalonic aciduria. These three diseases and vitamin B12 deficiency can affect the physical and mental development of children, causing brain damage , seizures, coma and damage to the eyes, kidneys and blood vessels. The effects can be life-threatening.
The four diseases mentioned above can be diagnosed by analyz.