What Is Phenylketonuria?
Phenylketonuria ( PKU ) is a genetic disorder , in which the body is not able-bodied to develop down a character of protein shout out phenylalanine . Phenylalanine is one of the amino acids that facilitate in protein formation in the body . However , in Phenylketonuria as the consistence is unable to treat this amino group acid , it begins to build up in the body and can be harmful .
Symptoms of Phenylketonuria (PKU)
Phenylketonuria is a rare inherited condition , under the umbrella of inborn errors ofmetabolismand its occurrence is around 1 in 10,000 cases .
The factor that is responsible for the breakdown of phenylalanine in the body gets altered in persons with Phenylketonuria . As a result , phenylalanine gets too stash away in their parentage and brain . If the levels become too eminent , it can affect thebrainand also the intellectual power .
What Causes Phenylketonuria?
Normally , when a person use up protein , the dead body derives the amino group dot – phenylalanine from it . The body then breaks it into an enzyme call phenylalanine hydroxylase ( PAH ) , which is responsible for further digestion of proteins . In persons with Phenylketonuria , the factor that control the role of this enzyme PAH is altered or mutate and hence the enzyme does not operate decent . This conduce to improper digestion of proteins and accrual of the amino acid – phenylalanine in the body and can further affect the brain .
Symptoms of Phenylketonuria
Although there may be no seeable symptoms of Phenylketonuria in newborn babies or those who have set out early treatment , if result untreated Phenylketonuria can have serious effects on the brain . In newborn infant the symptoms of Phenylketonuria may be seeable once the sister is few months sometime . The rigorousness of symptoms of Phenylketonuria may range from mild to severe .
Some of the symptom of Phenylketonuria Commonly go out Include :
As regards the coming into court , minor with Phenylketonuria may have a small sized capitulum or microcephalus . Due to the excess phenylalanine in their consistency , they may have a frowsty odor to their breathing time , piddle or peel . They may also appear fair with lighter fuzz and hide .
Mild or moderate Phenylketonuria are less austere shape and the children are relatively at footling danger of head price but particular caution and diet therapy is required . In severe or classic Phenylketonuria , the fry mostly digest from obvious learning ability wrong and are more probable to have mental retardation .
Some adult can also have ill - effects due to high level of phenylalanine like slenderize concentration , boring response sentence ; while some may not experience any difference . However , lasting brain damage due to high floor of phenylalanine is not known in adults .
Phenylketonuria in Pregnant Women
charwoman having Phenylketonuria are at an increase risk of experience the inauspicious - effects of the condition during pregnancy , which is called maternal Phenylketonuria . In this , the point of the amino loony toons – phenylalanine gain abnormally and can make damage to the develop foetus in the womb .
In such cases , the baby born to mothers with Phenylketonuria can have intra - uterine growth retardation ( IUGR ) , small sized head , genial backwardness , low giving birth weight , affectionateness desert andbehavioral issues , . These baby may not always inherit thegenetic disorderbut screening at birth can help in other identification .
Diagnosis of Phenylketonuria
The best style to name Phenylketonuria is to make up one’s mind the levels of phenylalanine in blood line . In babies , the blood test is performed during early days after birth . If the test turns plus , some additional investigations may be ordered to reassert the diagnosis .
Treatment for Phenylketonuria
Phenylketonuria is generally superintend in metabolic disorder clinics by experts specially train in the field . The treatment for Phenylketonuria mainly include restricting the inspiration of protein to qualify phenylalanine in the body and observe secure levels as recommended . This is in the first place a nutritionary therapy and require regular monitoring by a nutritional expert .
Once the disorder of Phenylketonuria is confirm the protein bound extra diet is advise . late , some approved aesculapian treatments are also becoming available to process Phenylketonuria and may be regard by the physician as applicable .
Nutritional Therapy for Phenylketonuria
The Phenylketonuria diet is mainly aimed at restricting proteins in the diet . baby with Phenylketonuria are given special formula . The specialdietfor child and adult with Phenylketonuria demand elimination of gamy - protein foods include Milk River , tall mallow , nuts , soja bean Cartesian product , beans , legume , egg , gist and Pisces . buckram food like bread , potatoes , Indian corn and confect are also limit in Phenylketonuria patient . Aspartame , which is present in many stilted hook , should also be debar as it releases phenylalanine after being digested .
As special diet can cause nutritional deficiencies ; appropriate nutritionary supplementation for essential amino group acid , vitamins , mineral like atomic number 30 , iron , etc and other micronutrients are considered . This diet is ideally recommended for living and conclusion of the diet after adolescence is more often than not not advisable .
Prevention of Phenylketonuria
Phenylketonuria being a genetic condition is present from birthing and can be identified soon after the birth by screening neonate for PKU . If Phenylketonuria is name at birthing , taking appropriate measure can forbid serious health concerns .
Special tending want to be given in case of fraught woman to observe the phenylalanine lineage level within the recommend range to avoid harmful effects to the fetus . Women with Phenylketonuria must contrive their maternity and begin with a phenylalanine - cut back dieting before conceiving under the guidance of metabolic or Phenylketonuria clinic expert .
