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]

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]

  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]

• Camping

  PubMed abstract Therrell BL Jr, Lloyd-Puryear MA, Camp KM, Mann MY. Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning. [medicalhomeportal.org]

  Camp, KM. “Phenylketonuria Scientific Review Conference: State of the science and future research needs”. Mol Genet Metab. vol. 112. 2014. pp. 87-122. [clinicaladvisor.com]

  ^ a b Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, et al. (June 2014). "Phenylketonuria Scientific Review Conference: state of the science and future research needs". [en.wikipedia.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]

• Problems at School

  With relaxation of diet, patients have increased deficits in executive function, attention deficit disorder and problems in school. [medicalhomeportal.org]

• Blue Eyes

  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]

  PKU signs and symptoms can be mild or severe and may include: A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body Neurological problems that may include seizures Skin rashes (eczema) Fair skin and blue eyes, because [mayoclinic.org]

  In addition, PAH deficiency also leads to lower levels of neurotransmitter substances in the brain and to lower levels of melanin, which is why children who are affected are often very blond, pale and have blue eyes. [gesundheitsindustrie-bw.de]

  Children tend to be very fair with pale blue eyes if compared to siblings or general family colouring. In undetected cases, children often give off a musty or 'mousey' odour. [patient.info]

  Phenylalanine and its toxic derivatives accumulate in the body and can cause brain damage with mental retardation, unexpectedly fair hair, blue eyes and a musty body odour. [medical-dictionary.thefreedictionary.com]

• Small Head

  Complications at birth may include: Low birth weight Delayed development Facial abnormalities Abnormally small head Heart defects and other heart problems Intellectual disability Behavioral problems When to see a doctor Seek medical advice in these situations [mayoclinic.org]

  Microcephaly or 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 [news-medical.net]

  This causes symptoms similar to that of regular PKU including microcephaly (small head size) and congenital heart disease. lies Hyperphenylalaninemia Edit Patients have high levels of phenylalanine in their blood, but not as high as seen in patients with [drustapbio.wikia.com]

  Other characteristic medical problems include heart defects or other heart problems, an abnormally small head size ( microcephaly ), and behavioral problems. [ghr.nlm.nih.gov]

  This can lead to various problems in the baby, including: intellectual disabilities heart defects delayed growth low birth weight an abnormally small head These signs aren’t immediately noticeable in a newborn, but a doctor will perform tests to check [healthline.com]

• Eczema

  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]

  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]

  […] 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]

  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]

  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]

• Skin Rash

  rashes and eczema “Musty” or “mousy” odor from the breath, urine and skin. [news-medical.net]

  PKU signs and symptoms can be mild or severe and may include: A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body Neurological problems that may include seizures Skin rashes (eczema) Fair skin and blue eyes, because [mayoclinic.org]

  If not diagnosed and placed on a PKU diet soon after birth, the following symptoms may be detected: Lethargy (weakness) Poor feeding habits Vomiting Irritability Skin rash with blisters/pimples (eczema-like) Musty (“mouse-like”) body odor If not kept [americanpregnancy.org]

  […] hair, eczematoid skin rash, signs of cerebral palsy in some including hypertonicity, functional spasticities with or without over contractures, and gait abnormalities, seizures (25%) and/or EEG abnormalities (75%) and mild increased incidence in congenital [clinicaladvisor.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]

• Behavior Problem

  Other characteristic medical problems include heart defects or other heart problems, an abnormally small head size ( microcephaly ), and behavioral problems. [ghr.nlm.nih.gov]

  Untreated PKU can lead to: Irreversible brain damage and marked intellectual disability beginning within the first few months of life Neurological problems such as seizures and tremors Behavioral, emotional and social problems in older children and adults [mayoclinic.org]

  Untreated PKU can also eventually cause: delayed development behavioral and emotional problems neurological problems, such as tremors and seizures PKU is a genetic condition, so it can’t be prevented. [healthline.com]

  Phenylketonuria Other names Phenylalanine hydroxylase deficiency, PAH deficiency, Følling disease [1] Phenylalanine Specialty Medical genetics, pediatrics Symptoms Without treatment intellectual disability, seizures, behavioral problems, mental disorders [en.wikipedia.org]

  If left untreated, complications of PKU include severe intellectual disability, brain function abnormalities, microcephaly, mood disorders, irregular motor functioning, and behavioral problems such as attention deficit hyperactivity disorder, as well [checkorphan.org]

• Tremor

  Untreated PKU can also eventually cause: delayed development behavioral and emotional problems neurological problems, such as tremors and seizures PKU is a genetic condition, so it can’t be prevented. [healthline.com]

  Microcephaly or 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 [news-medical.net]

  Untreated PKU can lead to: Irreversible brain damage and marked intellectual disability beginning within the first few months of life Neurological problems such as seizures and tremors Behavioral, emotional and social problems in older children and adults [mayoclinic.org]

  […] abandoned the phe-restricted diet tend to have a reduced attention span, slow information processing abilities, and slow motor reaction time They also develop changes in the frequency distribution of brain electrical activity, increased muscle tone and tremor [en.wikibooks.org]

  Other manifestations include tremors, poor muscular coordination, and excessive perspiration. A characteristic “mousy odor” may be present due to phenylacetic acid in the breath, skin, and urine. Convulsions may also be associated with the disease. [medical-dictionary.thefreedictionary.com]

• Phenylketonuria

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

  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]

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

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]

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]

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]

View Article PubMed Google Scholar Rivera I, Mendes D, Afonso Â, Barroso M, Ramos R, Janeiro P, Oliveira A, Gaspar A, Tavares de Almeida I: Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal [bmcpublichealth.biomedcentral.com]

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]