Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to...

is biosynthesized via the shikimate pathway. The genetic disorder phenylketonuria (PKU) is the inability to metabolize phenylalanine because of a lack...

malaria. Such disorders include cystic fibrosis, sickle cell disease, phenylketonuria and thalassaemia. Hereditary defects in enzymes are generally inherited...

development. Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) Phenylketonuria, a disorder where an error in amino acid metabolism can impair brain...

The European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (E.S.PKU) is a Europe-based non-profit organization. It was founded...

be screened for phenylketonuria and hypothyroidism, among other congenital disorders. Hypothesis: "The newborns have phenylketonuria and hypothyroidism"...

Europe. It has been suggested that carriers of alleles associated with phenylketonuria may have been protected from spontaneous abortion caused by ochratoxin...

synthase (PTPS) deficiency. Also, BH4*2HCL is FDA approved for use in phenylketonuria (PKU), along with dietary measures. However, most people with PKU have...

n-3 long-chain polyunsaturated fatty acid values in patients with phenylketonuria: a systematic review and meta-analysis". Nutrition Research. 33 (7):...

difference is not found in low fat consuming group (<35% of energy intake). Phenylketonuria, otherwise known as PKU, is an uncommon autosomal recessive metabolic...

hexosaminidase. One example of enzyme deficiency is the most common type of phenylketonuria. Many different single amino acid mutations in the enzyme phenylalanine...

mutation, while the other is a rare or even novel one. Phenylketonuria. Because phenylketonuria was the first genetic disorder for which mass post-natal...

role in effects of the human genetic disease phenylketonuria. The mutation that causes phenylketonuria disrupts the ability of the body to break down...

mutations in its encoding gene, PAH, can lead to the metabolic disorder phenylketonuria. The reaction is thought to proceed through the following steps: formation...

diet is used as a therapy for inherited metabolic disorders, such as phenylketonuria and homocystinuria, and can also be used to treat kidney or liver disease...

Two examples are diabetes mellitus (a multifactorial disorder) and phenylketonuria (an inborn error of metabolism). Many such inherited diseases may directly...

first described the disease commonly known as Følling's disease or phenylketonuria (PKU). He was born on 23 August 1888 at Kvam, Steinkjer in Trøndelag...

although in some people, malnutrition may occur. Individuals with phenylketonuria (PKU) must keep their intake of phenylalanine – an essential amino...

was a pioneer in developing nutritional therapy for management of phenylketonuria. Acosta was born at Shoal Creek Community. She obtained a B.A. from...

decreased glutamate release is observed under conditions of classical phenylketonuria leading to developmental disruption of glutamate receptor expression...

is a symptom of several diseases, including Lesch–Nyhan syndrome, phenylketonuria, and Huntington disease and can be a feature of kernicterus (rapidly...

lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, and urea cycle disorders. Cytogenetics is the study of chromosomes...

(depending on factors such as age and gender). An example of pleiotropy is phenylketonuria, an inherited disorder that affects the level of phenylalanine, an...

Other Radiation exposure to mother Maternal malnutrition Maternal phenylketonuria Poorly controlled gestational diabetes Hyperthermia Maternal hypothyroidism...

education level required) among the top five Google search results for "phenylketonuria", excluding Wikipedia. Healthline Media was founded in 1999 by endocrine...

understanding of major biochemical genetic disorders such as homocystinuria, phenylketonuria (PKU), and maternal PKU. Levy has published over 400 papers on biochemical...

the early detection (via neonatal screening) and the treatment of phenylketonuria (PKU). Woolf was born in London, England, on 24 April 1919. He was...

birth prevalence of one in 2,415 in metropolitan France, ahead of phenylketonuria (one in 10,862), congenital hypothyroidism (one in 3,132), congenital...

phenylalanine (2.6–4.1 g/100 g), which should be avoided by people who have phenylketonuria, a rare genetic disorder that prevents the body from metabolizing phenylalanine...

colestyramine to reduce possible interference with absorption. Patients with phenylketonuria should consult with a physician before taking Questran Light because...