A5036606578- Metabolism and Genetic Disorders
- Diet and metabolism studies
- Mitochondrial Function and Pathology
- Diet, Metabolism, and Disease
- Neonatal Health and Biochemistry
- Genetics and Neurodevelopmental Disorders
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Digestive system and related health
- Polyamine Metabolism and Applications
- Folate and B Vitamins Research
- Biochemical and Molecular Research
Tulane University
2016-2024
Inherited phenylalanine hydroxylase deficiency, also known as phenylketonuria (PKU), causes poor growth and neurologic deficits in the untreated state. After ascertainment through newborn screen dietary (Phe) restriction to achieve plasma Phe range of 120-360 μmol/L, these disease manifestations can be prevented. Poor compliance with protein restricted diets supported by medical food is typical later years, beginning late toddler teenage years. Pharmacologic doses oral tetrahydrobiopterin...
To present a case series that illustrates real-world use of pegvaliase based on the initial experiences US healthcare providers.Sixteen providers from 14 centers across with substantial clinical experience in treating patients phenylketonuria (PKU) two-plus years since FDA approval (May 2018) provided cases exemplified important lessons their pegvaliase. Key each and takeaway points were discussed both live virtual meetings.Fifteen adults PKU (eight males, seven females), representing...
Classical galactosemia is detected through newborn screening by measuring galactose-1-phosphate uridylyltransferase (GALT) in the USA primarily via Beutler spot assay. We report on an 18-month-old patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency that was originally diagnosed classical galactosemia. The presented elevated liver function enzymes and bilirubinemia immediately treated soy-based formula. Confirmatory tests revealed of GALT enzyme, however, full-sequencing normal,...
Background: Inherited phenylalanine hydroxylase deficiency, also known as phenylketonuria (PKU), causes poor growth and neurologic deficits in the untreated state. After ascertainment through newborn screen dietary restriction to achieve plasma (Phe) range of 120-360 μmol/L, these disease manifestations can be prevented. Poor compliance with protein restricted diets using medical food is typical later years, beginning late toddler teenage years. A pharmacologic dose oral tetrahydrobiopterin...