Phenylketonuria News and Research

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There are 20 essential amino acids in the body. Phenylalanine is one of these. These essential amino acids need to be supplied from external sources such as food. They are termed “essential” as they are needed for the body to function properly and grow normally.
Investigators identify group of blood metabolites that could help detect autism

Investigators identify group of blood metabolites that could help detect autism

Compounds found in green tea and red wine offer hope to treat inborn congenital metabolic diseases

Compounds found in green tea and red wine offer hope to treat inborn congenital metabolic diseases

FDA approves novel enzyme therapy for adults with rare and serious genetic disease

FDA approves novel enzyme therapy for adults with rare and serious genetic disease

Pediatric researchers uncover new syndrome that causes intellectual disability

Pediatric researchers uncover new syndrome that causes intellectual disability

MU researchers use MRI to study effects of Phenylketonuria

MU researchers use MRI to study effects of Phenylketonuria

Study could pave way for new treatment strategies for PKU

Study could pave way for new treatment strategies for PKU

Flagship launches Rubius to develop functionalized red blood cells for treatment of serious diseases

Flagship launches Rubius to develop functionalized red blood cells for treatment of serious diseases

GMP protein can improve gastrointestinal health by protecting digestive system from pathogens

GMP protein can improve gastrointestinal health by protecting digestive system from pathogens

Intrexon, Synthetic Biologics form ECC to develop and commercialize novel biotherapeutics for phenylketonuria

Intrexon, Synthetic Biologics form ECC to develop and commercialize novel biotherapeutics for phenylketonuria

Biologists discover vulnerability of brain cancer cells

Biologists discover vulnerability of brain cancer cells

Gene therapy transforms life for men with severe form of hemophilia B

Gene therapy transforms life for men with severe form of hemophilia B

Newborn screening can prevent lifelong disability

Newborn screening can prevent lifelong disability

Researcher explores public perceptions related to newborn screening programs

Researcher explores public perceptions related to newborn screening programs

Study shows fat transplantation may treat inherited metabolic diseases

Study shows fat transplantation may treat inherited metabolic diseases

UNC study to explore technology use in screening newborns for genetic conditions

UNC study to explore technology use in screening newborns for genetic conditions

Argininosuccinic aciduria (ASA) and gene therapy: an interview with Dr Julien Baruteau, UCL Institute for Women's Health, London

Argininosuccinic aciduria (ASA) and gene therapy: an interview with Dr Julien Baruteau, UCL Institute for Women's Health, London

Study examines relationship between medical interventions in childhood, increasing prevalence of later ID

Study examines relationship between medical interventions in childhood, increasing prevalence of later ID

AAP, ACMG release guidelines on best practices for genetic testing and screening of children

AAP, ACMG release guidelines on best practices for genetic testing and screening of children

Parents must be considered during expansion of genetic screening programs for newborns

Parents must be considered during expansion of genetic screening programs for newborns

AHRQ grants U-M $2.5M to study long-term health outcomes and cost-effectiveness of newborn screening

AHRQ grants U-M $2.5M to study long-term health outcomes and cost-effectiveness of newborn screening

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