Under the conditions employed in the present study, aspartame loading did not show any advantages in discriminating between PKU carriers and normal individuals when compared to the same analysis performed under fasting conditions. [ncbi.nlm.nih.gov]

• 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]

  However, if they are not treated or if their diets are not regulated for phenylalanine they may go on to show developmental delays and mental retardation. [news-medical.net]

  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]

  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]

• 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]

  Persons with phenylketonuria are usually blue-eyed and blond with defective pigmentation; the skin is excessively sensitive to light and susceptible to eczema. [medical-dictionary.thefreedictionary.com]

• 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]

• Dry, Scaly Skin

  Signs of classic PKU include: Irritability Seizures (epilepsy) Dry, scaly skin (known as eczema) “Musty” or "mouse-like” body odor Pale hair and skin Developmental delays Many of these signs may occur when your baby eats foods that their body cannot break [babysfirsttest.org]

• Suggestibility

  Abstract Indirect measurements have previously suggested that patients with classical phenylketonuria (PKU) do not convert significant amounts of phenylalanine to tyrosine. [ncbi.nlm.nih.gov]

• Impulsivity

  This covering helps speed nerve impulses along the axon. [medical-dictionary.thefreedictionary.com]

• Phenylketonuria

  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]

• 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]

There was no statistical difference for the percentage of blood Phe concentrations within the treatment range, the mean Phe concentrations or the SD between the various treatment periods. [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]

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]

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]

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]

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]

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]

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]

“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]