Key European guidelines for the diagnosis and management of patients with phenylketonuria

FJ Van Spronsen, AMJ van Wegberg… - The lancet Diabetes & …, 2017 - thelancet.com
We developed European guidelines to optimise phenylketonuria (PKU) care. To develop the
guidelines, we did a literature search, critical appraisal, and evidence grading according to …

Optimizing the use of sapropterin (BH4) in the management of phenylketonuria

N Blau, A Bélanger-Quintana, M Demirkol… - Molecular genetics and …, 2009 - Elsevier
Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH)
gene, leading to deficient conversion of phenylalanine (Phe) to tyrosine and accumulation of …

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of …

M Schiff, C Roda, ML Monin, A Arion, M Barth… - Journal of medical …, 2017 - jmg.bmj.com
Background Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is
a multisystem inborn error of metabolism. Objectives To better characterise the natural …

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III …

HL Levy, A Milanowski, A Chakrapani, M Cleary, P Lee… - The Lancet, 2007 - thelancet.com
Background Early and strict dietary management of phenylketonuria is the only option to
prevent mental retardation. We aimed to test the efficacy of sapropterin, a synthetic form of …

[PDF][PDF] The genetic landscape and epidemiology of phenylketonuria

A Hillert, Y Anikster, A Belanger-Quintana… - The American Journal of …, 2020 - cell.com
Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is
the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We …

[HTML][HTML] A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency

BK Burton, M Balwani, F Feillet, I Barić… - … England Journal of …, 2015 - Mass Medical Soc
Background Lysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks
down endocytosed lipid particles and regulates lipid metabolism. We conducted a phase 3 …

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

PB Mills, EJ Footitt, KA Mills, K Tuschl, S Aylett… - Brain, 2010 - academic.oup.com
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1
gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine …

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

J Thevenon, Y Duffourd, A Masurel‐Paulet… - Clinical …, 2016 - Wiley Online Library
The current standard of care for diagnosis of severe intellectual disability (ID) and epileptic
encephalopathy (EE) results in a diagnostic yield of∼ 50%. Affected individuals nonetheless …

Molecular genetics of tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency

MR Zurflüh, J Zschocke, M Lindner, F Feillet… - Human …, 2008 - Wiley Online Library
Mutations in the phenylalanine hydroxylase (PAH) gene result in phenylketonuria (PKU).
Tetrahydrobiopterin (BH4)‐responsive hyperphenylalaninemia has been recently described …

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

PB Mills, SSM Camuzeaux, EJ Footitt, KA Mills… - Brain, 2014 - academic.oup.com
The first described patients with pyridox (am) ine 5'-phosphate oxidase deficiency all had
neonatal onset seizures that did not respond to treatment with pyridoxine but responded to …