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...

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

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

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

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

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

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

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...

the other is a rare or even novel one.[citation needed] Phenylketonuria. Because phenylketonuria was the first genetic disorder for which mass post-natal...

administration, induces hyperphenylalaninemia analogous to that in phenylketonuria in animals. The drug is known to produce metaraminol (3,β-dihydroxyamphetamine)...

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

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

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

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

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

diseases, including GLUT1 deficiency syndrome, Lesch–Nyhan syndrome, phenylketonuria, and Huntington disease and can be a feature of kernicterus (rapidly...

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

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

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

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

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

developing the bacterial inhibition assay used to screen infants for phenylketonuria at birth, before the development of irreversible neurological damage...

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

elevated concentrations of the amino acid phenylalanine in the blood. Phenylketonuria (PKU) can result in severe hyperphenylalaninemia. Phenylalanine concentrations...

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...

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

is a rare autosomal recessive disorder of glycine metabolism. After phenylketonuria, glycine encephalopathy is the second most common disorder of amino...

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

hippocampal neurons by L-phenylalanine at concentrations observed during phenylketonuria". Molecular Psychiatry. 7 (4): 359–67. doi:10.1038/sj.mp.4000976. PMID 11986979...