Guía de Práctica Clínica Fenilcetonuria (PKU). Book · June with Reads. ISBN Publisher: La Caracola Editores. Authors and. La fenilcetonuria o PKU, es una afección metabólica en donde la persona no puede procesar la fenilalanina. Se necesita alimentos o una dieta especial para . Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH; ).

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GAMT deficiency Fenilcetonnuria encephalopathy. InHorst BickelEvelyn Hickmans and John Gerrard pkj a paper that described how they created a diet that was low in phenylalanine and the patient recovered. The impact of the control of serum phenylalanine levels on osteopenia in patients with phenylketonuria. Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria.

The ‘on diet’ group had only 2 reported episodes of transient depression not requiring psychiatric care.

Pitt and O’Day found only 3 persons with cataracts among 46 adults, aged 28 to 71 years, with untreated PKU. Most PAH missense mutations impair enzyme activity by causing increased protein instability and aggregation. Regression of neuropsychological deficits in early-treated phenylketonurics during adolescence. Phenylalanine tolerance tests in families with phenylketonuria and hyperphenylalaninemia. Genetic counseling should be provided to affected families.

Preliminary studies suggested that it may have a place in the treatment of PKU. Nature Reviews Drug Discovery. Untreated PKU can lead to intellectual disabilityseizuresbehavioral problems, and mental disorders.

In general, however, outcomes for people treated for PKU are good. Phenylketonuria affects about 1 in 12, babies. Psychiatric symptoms and disorders in phenylketonuria. From the significant differences observed in the relative frequencies and distributions of these 5 alleles throughout Europe, 4 of the putative founding events could be localized to specific ethnic subgroups: The mainstay of treatment is a low-phenylalanine diet and amino acids mixture for the forms that require treatment.


These patients show serum phenylalanine concentrations well below those in PKU, but still several times the normal. The absence of this mutation from haplotype 2 chromosomes in Chinese and Japanese populations suggested that the founding event was unique to Caucasoid peoples.

: Fenilcetonuria o PKU o FC

The PAH mutations stratified by geographic region and population, their distributions validating hypotheses about the European expansion to North America during 3 separate phases of immigration and demographic expansion in the Quebec region over the past 4 centuries.

Comparison to aprikalim RP and nitroglycerin”.

Fenilcetonkria and Lilburn reported that by November39 pregnancies had been completed in PKU mothers. The argto-trp mutation probably originated on a haplotype 2 chromosome in a Czechoslovakian population, although the absence of haplotype and frequency data from the more eastern regions of the Russian and other republics of the former Soviet Union precluded precise localization of a putative founding population.

They suggested that this accounts for the defect in formation of myelin and mental retardation in this disease. For people who do not have phenylketonuria, the U. Phenylketonuria fen-ul-key-toe-NU-ree-uhalso called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. Check this box if fenlicetonuria wish to receive a copy of your message.


The child may develop congenital heart disease, growth retardation, microcephaly and intellectual disability as a result. Their health is rarely affected, but they have one mutated gene recessive gene and one normal gene dominant gene for the condition.

The results suggested that PKU in this population is heterogeneous and reflects numerous migrations over the Balkan peninsula. No deletions were discovered. Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls. Because the mother’s body is able to break down phenylalanine during pregnancy, infants with PKU are normal at birth.

When Dag was about a year old, the mother noticed a strong smell to his urine. Sapropterin Tetrahydrobiopterin -Responsive PKU At least half of patients with phenylketonuria have a mild clinical phenotype. 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 disorderas well as physical symptoms such as a “musty” odor, eczema, and unusually light skin and hair coloration.

Ethnic distribution of phenylketonuria in the north German population.

Fenilcetonuria (PKU)

Patients’ groups were compared with a control sample of healthy controls 2, fenilcetonuriia from an epidemiologic study. Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria. Late diagnosis of phenylketonuria in a Bedouin mother.