Publications by authors named "Lilia Farret Refosco"
Unlabelled: Patients with phenylketonuria (PKU) who retain residual phenylalanine hydroxylase (PAH) activity may benefit from sapropterin dihydrochloride (sapropterin) administration.
Objective: To characterize sapropterin responsiveness in patients with PKU and investigate the impact of natural fluctuations in phenylalanine (PHE) levels and variations in PHE intake on sapropterin responsiveness.
Methods: Retrospective chart review study.
Article Synopsis
- - GLUT1 deficiency syndrome is a genetic disorder that leads to low glucose levels in the brain, causing symptoms like seizures, developmental delays, and movement disorders, which can vary in severity.
- - Treatment typically involves a ketogenic diet that provides an alternative energy source for the brain.
- - The study identifies a new genetic mutation in a preschool child with atypical symptoms and highlights the need for genetic testing in patients with developmental delays.
Article Synopsis
- The study aimed to identify and analyze feeding difficulties in children with Phenylketonuria (PKU) compared to those without the condition.
- It involved a cross-sectional analysis with 86 participants, including 40 children with PKU and 46 healthy controls, who completed a feeding scale through electronic surveys.
- Results showed similar rates of feeding difficulties in both groups, but children with PKU exhibited less feeding autonomy, were breastfed less often, and used baby bottles more frequently than their peers.
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disease caused by variants in the gene, which encodes the glycogen branching enzyme (GBE). GSD IV accounts for approximately 3% of all GSD. The phenotype of GSD IV ranges from neonatal death to mild adult-onset disease with variable hepatic, muscular, neurologic, dermatologic, and cardiac involvement.
View Article and Find Full Text PDFThe association between bone mineral density (BMD) and hepatic glycogen storage diseases (GSDs) is still unclear. To evaluate the BMD of patients with GSD I, IIIa and IXα, a cross-sectional study was performed, including 23 patients (GSD Ia = 13, Ib = 5, IIIa = 2 and IXα = 3; median age = 11.9 years; IQ = 10.
View Article and Find Full Text PDFArticle Synopsis
- - This study examined how phenylketonuria (PKU) is diagnosed and managed through diet in Latin America, using a survey sent to healthcare professionals across 14 countries.
- - Results showed that screenings for PKU are common, but dietary management varies greatly, with most countries lacking flavored amino acid substitutes and low-protein foods, and only a few having resources like nutrient analysis software.
- - Key barriers to effective treatment included low purchasing power, insufficient availability of low-protein foods, and inadequate technical resources, highlighting a need for improved dietary support for PKU patients in the region.
Background: Preterm newborns have higher nutrition risk and mortality. Nutrition risk screening enables early intervention. This article evaluates a nutrition screening tool in a neonatal intensive care unit (NICU).
View Article and Find Full Text PDFUnlabelled: Hepatic glycogen storage diseases (GSDs) are inborn errors of metabolism whose dietary treatment involves uncooked cornstarch administration and restriction of simple carbohydrate intake. The prevalence of feeding difficulties (FDs) and orofacial myofunctional disorders (OMDs) in these patients is unknown.
Objective: To ascertain the prevalence of FDs and OMDs in GSD.
Phenylketonuria (PKU) is an inborn error of metabolism associated with high blood levels of phenylalanine (Phe). A Phe-restricted diet supplemented with L-amino acids is the main treatment strategy for this disease; if started early, most neurological abnormalities can be prevented. The healthy human gut contains trillions of commensal bacteria, often referred to as the gut microbiota.
View Article and Find Full Text PDFPhenylketonuria (PKU) is an autosomal recessive disorder due to phenylalanine hydroxylase (PAH) deficiency. The PAH gene, located at 12q22-q24.1, includes about 90kb and contains 13 exons.
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