PKU is an inherited disorder from autosomal recessive gene. The babies must receive 2 copies of the recessive gene to deveop PKU. The parents will not know if they are PAH mutant gene carrier so there's no way they can free their babies from this disorder. However, it is still important for women to control the Phe level as high Phe level can result in slow growth, small head size and some other disorder in their babies.
Reference:
Editorial team, harvard. (2012). How does one prevent Phenylketonuria PKU. Retrieved June 12, 2012, from Oh my health: daily dose for better living: http://www.onlymyhealth.com/how-does-one-prevent-phenylketonuria-pku-12977608301
How do we control the levels of Phe in the body?
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DeleteThey control the level with strict dietary management and following PKU formula closely which has low intake of Phe and they are to avoid food rich in Phe such as Milk, steak etc and even aspartame (artificial sweetener). There is also a drug called Kuvan but its safety is still under studies.
DeleteSome people may also benefit from Sapropterin Dihydrochloride, (also known as BH4), a prescription drug approved in the European Union, Liechtenstein, Norway, Iceland, Switzerland, the United States and Japan.
The medication functions exactly like BH4, a substance found naturally in the body, which ultimately helps the body break down Phe by making the defective Phenylalanine Hydroxylase (PAH) enzyme more active.
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ReplyDeleteSo you mean it is possible for a baby to be affected with PKU although the parents do not have the gene for it?
ReplyDeleteNo... The gene is auto recessive. The parents may not be PKU patients but they carry the mutated PAH gene
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