WebPhenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. Causes PKU is inherited, which means it is passed down through families. Both parents must pass on a nonworking copy of the gene in order for a baby to have the condition. WebAug 21, 2014 · PKU is treated by limiting the amount of protein (that contains phenylalanine) in the diet. Treatment also includes using special medical foods as well as special low-protein foods and taking vitamins and minerals. People who have PKU need to follow this diet for their lifetime.
Phenylketonuria (PKU) - Pediatrics - Merck Manuals Professional Edition
WebMay 21, 2024 · Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe intellectual disability, epilepsy and behavioural problems. WebJul 9, 2024 · Phenylketonuria is an inborn error of phenylalanine metabolism which is due to the decreased metabolism of the amino acid. If left untreated the conditions may lead to seizures, intellectual disability, mental problems and behavioral disorders. It also leads to lighter and musty smell skin. mild weight loss
Phenylketonuria American Pregnancy Association
WebPhenylketonuria (PKU) is a rare metabolic disorder. Children with PKU can’t process an amino acid called phenylalanine. ... This means that neither parent has any symptoms of PKU, but both are carriers of the faulty gene. PKU is an autosomal recessive disease. This means that a child needs to inherit 1 faulty gene from each parent to show ... WebNov 23, 2024 · Women with phenylketonuria (PKU) should be educated about the risks of untreated pregnancy and the benefits of dietary and, in some cases, pharmacologic, treatment. Patients with PKU should avoid aspartame (an artificial sweetener). Aspartame is widely used in medicines, vitamins, beverages, and other substances. WebThe most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent intellectual disability. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common. new year\u0027s sugar cookies