Pku An Inborn Error Of Metabolism
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Classification and external resources Specialty medical genetics, pediatrics ICD-10 E70.0 ICD-9-CM 270.1 OMIM 261600 261630 DiseasesDB 9987 MedlinePlus 001166 eMedicine ped/1787 derm/712 article/947781 Patient UK Phenylketonuria MeSH D010661 GeneReviews Phenylalanine Hydroxylase Deficiency Orphanet inborn errors of metabolism list 716 226 [edit on Wikidata] Phenylketonuria (PKU) is an inborn error
Phenylalanine Metabolism Pathway
of metabolism that results in decreased metabolism of the amino acid phenylalanine.[2] Untreated PKU can lead to intellectual inborn errors of metabolism made easy disability, seizures, behavioral problems, and mental disorder. It may also result in a musty smell and lighter skin. Babies born to mothers who have poorly treated PKU may have heart inborn errors of metabolism pdf problems, a small head, and low birth weight.[1] Phenylketonuria is a genetic disorder inherited from a person's parents. It is due to mutations in the PAH gene which results in low levels of the enzyme phenylalanine hydroxylase. This results in the build up of dietary phenylalanine to potentially toxic levels. It is autosomal recessive meaning that both copies of the
Inborn Errors Of Amino Acid Metabolism
gene must be mutated for the condition to develop. There are two main types, classic PKU and variant PKU, depending on if any enzyme function remains. Those with one copy of a mutated gene typically do not have symptoms.[1] Many countries have newborn screening programs for the disease.[2] Treatment is with a diet low in foods that contain phenylalanine and special supplements. Babies should use a special formula. The diet should begin as soon as possible after birth and be lifelong.[3] People who are diagnosed early and maintain a strict diet can have normal health and a normal life span. Effectiveness is monitored through periodic blood tests.[4] The medication sapropterin dihydrochloride may be useful in some.[3] Phenylketonuria affects about one in 10,000 to 25,000 babies.[1][5] Males and females are affected equally.[6] The disease was discovered in 1934 by Ivar Asbjørn Følling with the importance of diet determined in 1953.[5] Gene therapy, while promising, requires a great deal more study as of 2014.[7] Contents 1 Signs and symptoms 2 Genetics 3 Pathophysiology 3.1 Classical PKU 3.2 Tetrahydrobiopterin-deficient
Classification and external resources Specialty medical genetics, pediatrics ICD-10 E70.0 ICD-9-CM 270.1 OMIM 261600 261630 DiseasesDB 9987 MedlinePlus 001166 eMedicine ped/1787 derm/712 article/947781 Patient UK Phenylketonuria MeSH D010661 GeneReviews Phenylalanine Hydroxylase Deficiency Orphanet 716 226 what is phenylketonuria [edit on Wikidata] Phenylketonuria (PKU) is an inborn error of metabolism that results pku metabolic pathway in decreased metabolism of the amino acid phenylalanine.[2] Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and
Inborn Errors Of Metabolism Chart
mental disorder. It may also result in a musty smell and lighter skin. Babies born to mothers who have poorly treated PKU may have heart problems, a small head, and low https://en.wikipedia.org/wiki/Phenylketonuria birth weight.[1] Phenylketonuria is a genetic disorder inherited from a person's parents. It is due to mutations in the PAH gene which results in low levels of the enzyme phenylalanine hydroxylase. This results in the build up of dietary phenylalanine to potentially toxic levels. It is autosomal recessive meaning that both copies of the gene must be mutated for the condition to https://en.wikipedia.org/wiki/Phenylketonuria develop. There are two main types, classic PKU and variant PKU, depending on if any enzyme function remains. Those with one copy of a mutated gene typically do not have symptoms.[1] Many countries have newborn screening programs for the disease.[2] Treatment is with a diet low in foods that contain phenylalanine and special supplements. Babies should use a special formula. The diet should begin as soon as possible after birth and be lifelong.[3] People who are diagnosed early and maintain a strict diet can have normal health and a normal life span. Effectiveness is monitored through periodic blood tests.[4] The medication sapropterin dihydrochloride may be useful in some.[3] Phenylketonuria affects about one in 10,000 to 25,000 babies.[1][5] Males and females are affected equally.[6] The disease was discovered in 1934 by Ivar Asbjørn Følling with the importance of diet determined in 1953.[5] Gene therapy, while promising, requires a great deal more study as of 2014.[7] Contents 1 Signs and symptoms 2 Genetics 3 Pathophysiology 3.1 Classical PKU 3.2 Tetrahydrobiopterin-deficient hyperphenylalaninemia 3.3 Metabolic pathways 4 Screening 5 Treatment 5.1 Diet 5.2 Supplements 5.3 Women 6 Epidemiology 7 H
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