Phenylketonuria
Amino acid metabolic disorder / From Wikipedia, the free encyclopedia
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Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.[3] Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders.[1][7] It may also result in a musty smell and lighter skin.[1] A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight.[1]
Phenylketonuria | |
---|---|
Other names | Phenylalanine hydroxylase deficiency, PAH deficiency, Følling disease[1] |
Phenylalanine | |
Specialty | Medical genetics, pediatrics, dietetics |
Symptoms | Without treatment intellectual disability, seizures, behavioral problems, mental disorders, musty odor[1] |
Usual onset | At birth[2] |
Types | Classic, variant[1] |
Causes | Genetic (autosomal recessive)[1] |
Diagnostic method | Newborn screening programs in many countries[3] |
Treatment | Diet low in foods that contain phenylalanine; special supplements[2] |
Medication | Sapropterin dihydrochloride,[2] pegvaliase[4] |
Prognosis | Normal health with treatment[5] |
Frequency | ~1 in 12,000 newborns[6] |
Phenylketonuria is an inherited genetic disorder.[1] It is caused by mutations in the PAH gene, which can result in inefficient or nonfunctional phenylalanine hydroxylase, an enzyme responsible for the metabolism of excess phenylalanine.[1] This results in the buildup of dietary phenylalanine to potentially toxic levels.[1] It is autosomal recessive, meaning that both copies of the gene must be mutated for the condition to develop.[1] There are two main types, classic PKU and variant PKU, depending on whether any enzyme function remains.[1] Those with one copy of a mutated gene typically do not have symptoms.[1] Many countries have newborn screening programs for the disease.[3]
Treatment is with a diet that (1) is low in foods that contain phenylalanine, and which (2) includes special supplements.[2] Babies should use a special formula with a small amount of breast milk.[2] The diet should begin as soon as possible after birth and be continued for life.[2] People who are diagnosed early and maintain a strict diet can have normal health and a normal life span.[5] Effectiveness is monitored through periodic blood tests.[5] The medication sapropterin dihydrochloride may be useful in some.[2]
Phenylketonuria affects about 1 in 12,000 babies.[6] Males and females are affected equally.[8] The disease was discovered in 1934 by Ivar Asbjørn Følling, with the importance of diet determined in 1935.[9] As of 2023, genetic therapies that aim to directly restore liver PAH activity are a promising and active research field.[10]