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Classical Phenylketonuria

PKU


Presentation

  • 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]
  • 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]
  • At present, DNA data cannot be used as an aid in early clinical classification and prognosis of hyperphenylalaninaemia in Bulgaria.[ncbi.nlm.nih.gov]
  • Dietary Fe was present in the diets, but its bioavailability is questionable as several laboratory results were not within accepted reference values.[ncbi.nlm.nih.gov]
  • At present, T lymphocyte-directed gene therapy is the only means for which a safety record has been established. Thus, we investigated the applicability of this strategy to PKU gene therapy.[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 Mental Retardation
  • Phenylketonuria (PKU) is a treatable autosomal recessive condition which, without treatment, causes progressive mental retardation. It is due to the inherited deficiency of the enzyme phenylalanine hydroxylase (PAH).[clinicaladvisor.com]
  • Untreated individuals have very fair hair, eczema, a mousy odor of the urine and skin, and progressive mental retardation. Treatment consists of a diet low in phenylalanine.[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
  • 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]
  • One major symptom is Eczema, an irritating and itchy rash on the skin, and a musky odor. Abnormally fair skin and hair as well as hair loss are also very rare symptoms. In extreme cases, the afflicted child will experience seizures.[drustapbio.wikia.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]
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]
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]
  • The linear 20-kDa PEG-PAL combination abolished in vivo immunogenicity after repeated challenge while retaining full catabolic activity against phenylalanine, suggesting potential as a novel PKU therapeutic.[ncbi.nlm.nih.gov]
  • The demethylated allele is suggested as an early epigenetic marker for an extracellular monitoring of an increased ROS production in newborns with PKU. Copyright 2016 The Canadian Society of Clinical Chemists. Published by Elsevier Inc.[ncbi.nlm.nih.gov]
  • Our finding suggests that instead of limited local screening programmes in the country, a nationwide screening programme for PKU, especially if coupled with screening for congenital hypothyroidism, would be highly cost-effective and warranted.[ncbi.nlm.nih.gov]
  • We suggest studying the feasibility of the approach in preliminary diagnosis of PKU and confirming autozygosity of chromosome 12, prenatal diagnosis, and preimplantation genetic testing.[ncbi.nlm.nih.gov]
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]
  • 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]
  • 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]
  • Abstract The age at which children suffering from classical phenylketonuria can safely discontinue their dietary therapy has been constantly disputed over the past decades.[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]

Workup

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]

Treatment

  • 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]
  • 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]
  • Protein metabolism is altered in patients with phenylketonuria (PKU) on dietary treatment and as shown recently, oxidative stress is high in PKU.[ncbi.nlm.nih.gov]
  • Initial problems associated with treatment lead to remarkable releases of phenylalanine, a neurotoxin. Causes included increased catabolism secondary to tumor lysis and chemotherapy, as well as infection, intermittent fasting and anorexia.[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]

Prognosis

  • 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]

Etiology

  • "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]

Epidemiology

  • 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.com]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]

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