Phenylketonuria (PKU) PKU at a Glance Name of disorder: Phenylketonuria (PK

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Phenylketonuria (PKU) PKU at a Glance Name of disorder: Phenylketonuria (PK

Cedarville College, US has reference to this Academic Journal, Phenylketonuria (PKU) PKU at a Glance Name of disorder: Phenylketonuria (PKU) OMIM number: 261600 inheritance pattern: autosomal recessive PKU At A Glance PKU is a metabolic disorder caused by a deficiency of the liver enzyme phenylalanine hydroxylase. It prevents normal metabolization of

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PKU At A Glance phenylalanine (Phe), one of the essential amino acids that cannot be manufactured by the body in addition to must therefore be consumed in protein rich foods. PKU At A Glance Untreated individuals may give off a musty odor in addition to they excrete large amounts of phenylalanine in their urine. Phe so that Tyr Conversion Enzymes are structures that allow amino acids so that combine by acting on a substrate in addition to producing a new product. Individuals alongside PKU have a deficiency in the enzyme

Phe so that Tyr Conversion phenylalanine hydroxylase, which converts phenylalanine so that tyrosine. Phe so that Tyr Conversion Metabolic Pathways In individuals alongside PKU, phenylalanine can?t be converted into tyrosine, in addition to the metabolic process stops short of producing the needed end products.

Reactivity of Alkanes vs. Alcohols OH

Metabolic Pathways Phenylalanine builds up in the body so that toxic levels, causing mental retardation. PKU Genetics The PKU gene is found on the q arm of chromosome 12, locus 24.1 in the phenylalanine hydroxylase gene PKU Genetics

PKU Onset The inability so that metabolize PKU exists from the time the infant is in the womb. Infants are screened in consideration of PKU by a blood test shortly after birth. PKU Onset High levels of phenylalanine in the blood indicate an inability so that process the amino acid, in addition to thus indicate that an individual is affected by the disorder. PKU Onset Testing must be accomplished quickly since the inability so that process phenylalanine means it can build up so that toxic levels in addition to cause severe mental retardation.

PKU Treatment The only treatment available in consideration of PKU is a diet where phenylalanine levels are strictly limited. PKU Treatment Meat, fish, eggs, cheese, milk products, legumes, in addition to bread are all foods that have high levels of phenylalanine PKU Treatment Artificial protein substitutes are given which contain amino acids without phenylalanine

PKU Prognosis If the condition was not diagnosed early in addition to a special diet started, the indidivudal will suffer severe in addition to irreversable brain damage. PKU Prognosis If detected early, the individual will develop normally but will have so that follow the special diet at least until adolescence, if not throughout their entire life. PKU Prognosis Women alongside PKU who wish so that become pregnant must also eat the special diet, since children in the womb affected alongside PKU will not be able so that metabolize the phenylalanine the mother ingests.

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