Scientists offer new insight on rare genetic condition

(University of Missouri-Columbia) All children are screened for a host of conditions at birth, such as Phenylketonuria, a genetic disorder that is passed by mutated genes from both parents to their offspring. Currently the primary way to manage the disease is through a restricted diet. Now, researchers at the University of Missouri, are using magnetic resonance imaging to learn more about the effects of this disorder on the brain and to assist scientists in developing therapeutic drugs.
Source: EurekAlert! - Medicine and Health - Category: Global & Universal Source Type: news

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ConclusionTreatment for PKU incurs a substantial time and cost burden on persons with PKU and their families. Estimated medical expenditures using claims data varied by age group, but sapropterin represented the largest cost for PKU treatment from a payer perspective across age groups.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
Phenylketonuria is a hereditary metabolic disorder due to the deficiency of tetrahydrobiopterin or phenylalanine hydroxylase. Delayed diagnoses of it manifest a progressive irreversible neurological impairment in the early years of the disease. Guthrie test and tandem mass spectrometry aided in early detection and intervention of phenylketonuria, which significantly decreased the disability of patients as well as reducing the need for diagnosis in adults. This is a case report of a 60-year-old Asian man, characterized by severe visual-spatial disorders and bilateral diffuse symmetric white matter lesions on magnetic resona...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Analyst, 2019, Accepted Manuscript DOI: 10.1039/C9AN01642B, PaperJennifer Wild, Meera Shanmuganathan, Mika Hayashi, Murray Potter, Philip Britz-McKibbin Management of phenylketonuria (PKU) requires lifelong restriction of phenylalanine (Phe) intake using specialized medical foods to prevent neurocognitive impairment in affected patients. However, dietary adherence is challenging to maintain while... The content of this RSS Feed (c) The Royal Society of Chemistry
Source: RSC - Analyst latest articles - Category: Chemistry Authors: Source Type: research
Condition:   Phenylketonurias Intervention:   Drug: RTX-134 Sponsor:   Rubius Therapeutics Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Phenylketonuria Interventions:   Drug: CDX 6114;   Other: Matching Placebo Sponsor:   Nestlé Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Publication date: Available online 2 July 2019Source: NeuroImage: ClinicalAuthor(s): Zoë Hawks, Anna M. Hood, Dov B. Lerman-Sinkoff, Joshua S. Shimony, Jerrel Rutlin, Daniel Lagoni, Dorothy K. Grange, Desirée A. WhiteAbstractPhenylketonuria (PKU) is a recessive disorder characterized by disruption in the metabolism of the amino acid phenylalanine (Phe). Prior research indicates that individuals with PKU have substantial white matter (WM) compromise. Much less is known about gray matter (GM) in PKU, but a small body of research suggests volumetric differences compared to controls. To date, developmental trajecto...
Source: NeuroImage: Clinical - Category: Radiology Source Type: research
remains one of the most common inborn errors of metabolism. In the UK it is detected on the newborn heel-prick screening sample allowing early treatment with a strict low phenylalanine diet supplemented with artificial amino acids and appropriate vitamin and minerals. Although the long-term prognosis is good, there is an increasing body of evidence highlighting subtle problems in neuropsychological function with slower reaction times and poorer executive function than peers. White matter changes clearly seen on brain magnetic resonance imaging may have some relationship to these neuropsychological difficulties but their s...
Source: Paediatrics and Child Health - Category: Pediatrics Authors: Tags: Symposium: inborn errors of metabolism Source Type: research
Publication date: Available online 26 December 2018Source: Molecular Genetics and MetabolismAuthor(s): R. Feldmann, J. Osterloh, S. Onon, J. Fromm, F. Rutsch, J. WeglageAbstractBackgroundThe long-term prognosis of early treated phenylketonuria (PKU) is still under discussion. Aim of this controlled long-term study was to assess the neurological and neuropsychological outcome in adult patients with early-treated PKU.MethodsWe investigated 35 patients with early-treated classical PKU aged 29 to 51 years (mean age 41 years) and 18 healthy controls matched for age and socioeconomic status. Patients and controls were assess...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
CONCLUSIONS: Akinesia without rigidity has not been described in subjects with GCH1 mutation. This report extends the clinical spectrum of GCH1 mutations and other dopa-responsive syndromes and permits greater recognition of this treatable disorder.Disclosure: Dr. Lineback has nothing to disclose. Dr. Manteuffel Jensen has nothing to disclose. Dr. Wilcock has nothing to disclose. Dr. Fink has received personal compensation for activities with Athena Diagnostics Laboratory as a speaker.
Source: Neurology - Category: Neurology Authors: Tags: Child Neurology and Developmental Neurology: Genetics Source Type: research
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency. Tohoku J Exp Med. 2015;237(4):323-7 Authors: Sasai H, Shimozawa N, Asano T, Kawamoto N, Yamamoto T, Kimura T, Kawamoto M, Matsui E, Fukao T Abstract Cystathionine β-synthase (CBS) deficiency, well known as classical homocystinuria, is a rare autosomal recessive inborn error of homocysteine and sulfur metabolism. CBS converts homocysteine to cystathionine. The clinical features of untreated CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomal...
Source: The Tohoku Journal of Experimental Medicine - Category: Research Authors: Tags: Tohoku J Exp Med Source Type: research
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