Phenylalaninemia
Overview
Phenylalaninemia (medical condition): A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase.
Symptoms
The list of signs and symptoms mentioned in various sources for Phenylketonuria includes the 55 symptoms listed below: * Growth retardation * Mental retardation * Recurring seizures * Hypopigmentation * Eczema-like skin rash * Infant lethargy * Poor infant feeding * Vomiting * Irritability * Eczematoid skin rash * Musty body odor * Mousey body odor * Excess phenylacetic acid in urine * Excess phenylacetic acid in perspiration * Mental retardation if untreated * Short stature * Light hair * Fair complexion * Craniofacial abnormalities if untreated * Small head * Prominent upper jaw bone * Widely spaced teeth * Impaired development of tooth enamel * Coarse skin * Seizures * Spasticity * Increased muscle tone * Increased deep tendon reflexes * Reduced sperm count * Spontaneous abortions * Intrauterine growth retardation * Behavioral problems * Infant feeding problems * Infant drowsiness * Infant listlessness * Light eyes * Light skin * Light hair * Eczematous rash * Itching skin * Red skin * Blistered skin * Mental retardation * Neurological symptoms * Seizures * Hyperactivity * Poor coordination * Clumsy gait * Abnormal posturing * Aggressiveness * Psychiatric disturbances * Nausea * Vomiting * Musty body odor * High blood phenylalanine level
Treatment
The list of treatments mentioned in various sources for Phenylketonuria includes the following list. Always seek professional medical advice about any treatment or change in treatment plans. * Low-phenylalanine diet - a very strict diet to avoid particular substances. o Avoid high protein foods o Avoid aspartame - an artificial sweetener. o Avoid diet sodas - many contain aspartame * Strict diet during pregnancy - avoids damage to the fetus. * Reduced phenylalanine in diet .Treatment consists of restricting dietary intake of the amino acid phenylalanine to keep phenylalanine blood levels between 3 and 9 mg/dl. Because most natural proteins contain 5% phenylalanine, they must be limited in the child's diet. An enzymatic hydrolysate of casein, such as Lofenalac powder or Pregestimil powder, is substituted for milk in the diets of affected infants. This milk substitute contains a minimal amount of phenylalanine, normal amounts of other amino acids, and added amounts of carbohydrate and fat. Dietary restrictions usually continue throughout life. The special diet for PKU calls for careful monitoring. Because the body doesn't make phenylalanine, overzealous dietary restriction can induce phenylalanine deficiency, producing lethargy, anorexia, anemia, rashes, and diarrhea.