Phenylketonuria is an inherited disorder of metabolism in which the body cannot properly break down the amino acid phenylalanine, found in many protein-containing foods. If left untreated, the resulting buildup of phenylalanine can cause intellectual disability, seizures, behavioral problems, and other mental disorders, along with a distinctive musty odor and lighter skin than would otherwise be expected. Because the condition can be managed through a carefully controlled diet if identified early, many countries screen newborns for it routinely.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) First Described Connections
Sources
1. Wikipedia: Phenylketonuria
Wikipedia- Phenylketonuria is an inherited genetic disorder.
Lead section, body-system statement
It may also result in a musty smell and lighter skin.
Lead section, body-system statement (cardiovascular)
A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight.
View the Source 2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVIIQuote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
3. Wikipedia: Non-communicable disease
WikipediaLead section, transmission-route statement (inferred from disease-category)
Down syndrome and Cystic fibrosis.
Inherited/genetic diseases section
Down syndrome and Cystic fibrosis.
View the Source 4. Phenylketonuria (Wikipedia)
Disease discovered in 1934 by Ivar Asbjorn Folling, article introView the Source Reader Challenges (0)
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