Classical PKU is related to a complete or near-complete deficiency of phenylalanine hydroxylase. The disorder is caused by variants in the PAH gene (12q22-q24.2) ...
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Disease name. ORPHAcode. ORPHA:79254 Classic phenylketonuria. Activity limitation/participation restriction is described according to the Orphanet Functioning ...
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Missing: 79254 | Show results with:79254
Orphanet maintains the Orphanet nomenclature of rare diseases, essential in improving the visibility of rare diseases in health and research information systems ...
Missing: 79254 | Show results with:79254
ORPHA:79254. Klassifizierungsebene: Subtyp der Störung. Synonym(e):. PKU, klassische. Prävalenzen: 1-9 / 100 000. Erbgang: Autosomal-rezessiv.
ORPHA:79254. Nivel de clasificación: Subtipo de trastorno. Sinónimo(s):. PKU clásica. Prevalencia: 1-9 / 100 000. Herencia: Autosómica recesiva. Edad de inicio ...
To better describe rare disorders of genetic origin, Orphanet provides information on every gene related to a rare disorder. The relationship between genes and ...
Missing: 79254 | Show results with:79254
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood.
ORPHA:79254. Úroveň klasifikace: Podtyp onemocnění. Synonyma: Klasická PKU. Prevalence: -. Dědičnost: Autosomálně recesivní. Věk prvních příznaků: Rané dětství ...
Phenylketonuria (ORPHA:79254 (link is external)): an inherited disorder ... symptoms, rare diseases can pose certain problems: ... disease; a lack of treatment ...