No significant differences in growth and body composition were present between PKU patients and healthy populations either at birth or during the study period. [ncbi.nlm.nih.gov]

These patients tend to have less serious disease that presents later in life and their optimal treatment is less clear-cut. [patient.info]

• Developmental Delay

  Classical phenylketonuria (PKU) and Goldenhar's syndrome were diagnosed in a six-month-old male infant who was referred to Hacettepe Children's Hospital for evaluation of developmental delay. [ncbi.nlm.nih.gov]

  Progressive developmental delay and general learning disability are the usual modes of presentation in those not detected by screening. [patient.info]

  When the disease has progressed beyond early developmental stage without detection, there may be delayed mental and social developments. [news-medical.net]

  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. [icd9data.com]

  Some children with phenylketonuria (PKU) have developmental delays. If you think that your baby is not meeting their developmental milestones, ask your baby’s doctor about the next steps in accessing a developmental evaluation and care. [babysfirsttest.org]

• Progressive Intellectual Disability 

  Left untreated, the disorder can cause brain damage and progressive intellectual disability as a result of the accumulation of phenylalanine and its breakdown products. phen′yl·ke′to·nu′ric adj. & n. phenylketonuria (PKU) [fen′əlkē′tōnyoo͡r′ē·ə, fē′nəl [medical-dictionary.thefreedictionary.com]

• Increased Susceptibility to Infections

  BACKGROUND: An increased susceptibility to infections has been observed in some patients with phenylketonuria (PKU), which is not well known whether it is due to alterations of plasma essential amino acid concentrations or to some other factors. [ncbi.nlm.nih.gov]

• Strabismus

  There had been epibulbar dermoids in his left eye, strabismus, bilateral multiple preauricular appendices, malar hypoplasia, micrognathia, hemifacial microsoma and high palatal vault. [ncbi.nlm.nih.gov]

• Eczema

  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. [icd9data.com]

  The phenylalanine from that food remains in the person's system, however, and as Phe accumulates over time they may experience concentration, confusion and mood problems, as well as eczema and other symptoms. [checkorphan.org]

  […] small head size Increased activity in the child or behavioural problems Mental retardation and developmental delays Jerky movements of the legs and arms Tremors Abnormal movements of the hands and arms Seizures or epilepsy like features Skin rashes and eczema [news-medical.net]

  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. [fpnotebook.com]

  Additionally there can be mousy odour, eczema, epilepsy and perceptible posture changes. [i12r-studfilesrv.informatik.tu-muenchen.de]

• Blonde Hair

  In addition to congenital anomalies and developmental delay, blond hair, fair skin and unusual urinary odor were noted. Ferric chloride test on his urine sample was positive, and the plasma phenylalanine level was high (34 mg/dl). [ncbi.nlm.nih.gov]

  This may explain why persons with phenylketonuria generally have blond hair, blue eyes, and fair skin. Phenylketonuria is transmitted by an autosomal recessive gene, which is present in about 1 in every 60 people. [britannica.com]

• Phenylketonuria

  (diagnosis), phenylketonuria, Phenylalaninemia, Phenylketouria, Phenylketonuria - pku, Phenylketonurias [Disease/Finding], phenylketonurias, phenylketonuria (PKU), phenylketouria, pku phenylketonuria, Phenylketonuria (disorder), Classical Phenylketonuria [fpnotebook.com]

  Maternal phenylketonuria Persistent hyperphenylalaninemia Persistent hyperphenylalaninemia AND tyrosinemia Phenylketonuria Phenylketonuria, maternal Pterin-4-carbinolamine dehydratase deficiency Transient hyperphenylalaninemia Clinical Information A [icd9data.com]

  This enzyme from a patient with phenylketonuria is a structurally altered form of phenylalanine 4-hydroxylase that probably results from a mutation in the gene coding for the hydroxylase. [ncbi.nlm.nih.gov]

  Genetic Implications for newborn screening for phenylketonuria. Clin Perinatol. 2001;28:419-24. van Spronsen FJ, Smit PG, Koch R. Phenylketonuria: tyrosine beyond the phenylalanine diet. J Inherit Metab Dis. 2001;24:1-4. Griffith P. [rarediseases.org]

• Liver Biopsy

  Abstract An extract from a liver biopsy of a patient with classical phenylketonuria contains phenylalanine 4-hydroxylase (EC 1.14.3.1) with a specific activity 0.27% of the normal activity of the hydroxylase. [ncbi.nlm.nih.gov]

Further controlled studies are necessary not only to rule out any side effects but also for optimizing treatment strategies with BH4 treatment in mild phenylketonuria. [ncbi.nlm.nih.gov]

That is, higher parent I.Q. scores and education, earlier treatment initiation, lower blood phe levels during treatment, and not stopping the diet all had beneficial effects on ultimate adult I.Q. scores. [pkunews.org]

This way, the healthcare staff and the child’s parents can provide the adequate treatment to prevent brain damage. What kind of treatments are available? The treatment available for PKU consists of a slew of dietary restrictions. [americanpregnancy.org]

At present, DNA data cannot be used as an aid in early clinical classification and prognosis of hyperphenylalaninaemia in Bulgaria. [ncbi.nlm.nih.gov]

Prognosis Worsening intellectual disability and developmental delay in infancy and childhood if untreated. Long-term outlook is excellent in those who adhere to dietary and other therapies. [patient.info]

Prognosis Early newborn screening, careful monitoring, and a life-long strict dietary management can help PKU patients to live normal, healthy, and long lives. Resources Books Brust, John C. M. [medical-dictionary.thefreedictionary.com]

[…] possible for fetuses at 25% risk for PAH deficiency by amnio and CVS Has also been done with linkage studies Addenda [ edit ] THE REST OF THE OUTLINE IS ONLY IF QUESTIONS ARISE, but much of it will be talked about by other members of the team Symptoms/prognosis [en.wikibooks.org]

These findings can be useful to genotype/phenotype relationship in patients and provide future some ability to confirmatory diagnostic testing, prognosis and predict severity of PKU patients. [springerplus.springeropen.com]

"Phenylalanine assembly into toxic fibrils suggests amyloid etiology in phenylketonuria". Nature Chemical Biology. 8 (8): 701–6. doi : 10.1038/nchembio.1002. PMID 22706200. ^ Surtees R, Blau N (2000). "The neurochemistry of phenylketonuria". [en.wikipedia.org]

Comprised of 17 chapters, this book begins with an epidemiological review of very early pregnancy loss, focusing on fertilization and implantation; the probability of loss between fertilization and implantation (on about the sixth day), and between implantation [books.google.de]

Diet in the epidemiology of cancer of the colon and rectum. ‎ Página 335 - Concato J, Shah N, Horwitz RI. Randomized, controlled trials, observational studies, and the hierarchy of research designs. N Engl J Med 2000; 342: 1887-92 50. ‎ [books.google.es]

J Hum Genet 58:279–284 View Article Google Scholar Couce ML, Boveda MD, Fernandez-Marmiesse A, Miras A, Perez B, Desviat LR, Fraga JM (2013) Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia [springerplus.springeropen.com]

Epidemiology One study estimated the prevalence per 10,000 live births in South East England was 1.14 among white, 0.11 among black and 0.29 among Asian ethnic groups [ 4 ]. There is marked variation between different ethnic groups. [patient.info]

The impaired brain functioning in PKU patients is felt to be due to the excess of PHE and PHE-metabolites in the brain, but the exact pathophysiology remains unclear. [medschool.lsuhsc.edu]

This is an example of allelic genetic heterogeneity. [5] Pathophysiology [ edit ] When Phe cannot be metabolized by the body, a typical diet that would be healthy for people without PKU causes abnormally high levels of Phe to accumulate in the blood, [en.wikipedia.org]

But most children with the disorder still require a special PKU diet to prevent intellectual disability and other complications. [mayoclinic.org]

If you have PKU, you can prevent symptoms by following your PKU meal plan throughout your life. [healthline.com]

Excess phenylalanine is toxic to cognitive development and a low-phenylalanine diet prevents mental retardation, but it is a difficult therapeutic option. [ncbi.nlm.nih.gov]

“Many PKU sufferers on a low-phenylalanine diet develop osteoporosis at quite a young age,” said Trefz, “or they reveal other deficiencies that could be prevented with normal nutrition.” [gesundheitsindustrie-bw.de]

This includes limiting protein intake; however, this must be done cautiously to prevent mental retardation, as well as neurological and dermatological problems. [americanpregnancy.org]