Disease Information for Phenylketonuria/PKU (Clinical Manifestations)

Classical Phenylketonuria, Classical phenylketonuria (disorder), Classical Phenylketonurias, DEFIC DIS PHENYLALANINE HYDROXYLASE, DEFIC DIS PHENYLALANINE HYDROXYLASE SEVERE, Deficiency Disease Phenylalanine Hydroxylase, Deficiency Disease Phenylalanine Hydroxylase Severe, deficiency phenylalanine hydroxylase, Disease Folling, Disease Folling's, Diseases Folling, FOELLING SYNDROME, Folling, Fölling, FOLLING DIS, Folling Disease, Folling Diseases, FOLLINGS DIS, Folling's Disease, Folling's syndrome, Hyperphenylalaninaemia type I, Hyperphenylalaninemia type I, Imbecilitus phenylpyruvica, Is Phenylketonuria, Oligophrenia (Phenylpyruvic), OLIGOPHRENIA PHENYLPYRUVIC, Oligophrenia phenylpyruvica, PAH Phenylalanine hydroxylase deficiency, PAH deficiency, PAH Phenylalanine hydroxyl def, Phenylalanine hydroxylase def, PHENYLALANINE HYDROXYLASE DEFIC DIS, PHENYLALANINE HYDROXYLASE DEFIC DIS SEVERE, Phenylalanine hydroxylase deficiency, Phenylalanine Hydroxylase Deficiency Disease, Phenylalanine Hydroxylase Deficiency Disease Severe, Phenylketonuria, Phenylketonuria classic, Phenylketonuria Classical, Phenylketonuria I, Phenylketonuria Is, Phenylketonurias Classical, phenylpyruvic oligophrenia, PKU, PKU Phenylketonuria, PKU1 Phenylketonuria, Sev phenylalan hydroxyl defic, Severe phenylalanine hydroxylase deficiency

A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (atypical phenylketonuria); Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system; (From Adams et al, Principles of Neurology, 6th ed,)<br>

-----------------------------------------<br>

Phenylketonuria AKA Classical Phenylketonuria, Hyperphenylalanemia , PKU , Phenylalanine Hydroxylase Deficiency , Phenylalaninemia; Phenylketonuria (PKU) is an inborn error of metabolism that is detectable during the first days of life with appropriate blood testing (eg, during routine neonatal screening); PKU is characterized by absence or deficiency of an enzyme (phenylalanine hydroxylase) that is responsible for processing the essential amino acid phenylalanine; With normal enzymatic activity, phenylalanine is converted to another amino acid (tyrosine), which is then utilized by the body; However, when the phenylalanine hydroxylase enzyme is absent or deficient, phenylalanine abnormally accumulates in the blood and is toxic to brain tissue; Symptoms associated with PKU are typically absent in newborns; Affected infants may be abnormally drowsy and listless (lethargic) and have difficulties feeding; In addition, untreated infants with PKU tend to have unusually light eyes, skin, and hair (light pigmentation) and may develop a rash that appears similar to eczema, an inflammatory skin condition that may be characterized by itching, redness, and blistering in affected areas; Without treatment, most infants with PKU develop mental retardation that is typically severe; Those with untreated PKU may also develop additional neurologic symptoms, such as episodes of uncontrolled electrical activity in the brain (seizures), abnormally increased activity (hyperactivity), poor coordination and a clumsy manner of walking (gait), abnormal posturing, aggressive behavior, or psychiatric disturbances; Additional symptoms and findings may include nausea, vomiting, and a musty or "mousy" body odor due to the presence of a by-product of phenylalanine (phenylacetic acid) in the urine and sweat; To prevent mental retardation, treatment consists of a carefully controlled, phenylalanine-restricted diet beginning during the first days or weeks of life; Most experts suggest that a phenylalanine-restricted diet should be lifelong in persons with classical PKU; Classical PKU refers to persons with 2 severe mutations of the phenylalanine hydroxylase gene--- [NORD 2005]----------

(Edit)

• Suggest a Missing Finding
• Suggest a Correction or Removal
• Suggest a Better Translation
• Suggest a Reference or External Link
• Suggest an Image
• How Can We Make It Better?
• Become an Editor
• Your Testimony

Available only to registered users.