Publications by authors named "A Freed"
Vitamin B, or pantothenate, forms the molecular "backbone" of coenzyme A (CoA), which is essential for more than a hundred biochemical reactions in humans. Genetic defects that disrupt the CoA pathway cause severe degenerative disorders that may be amenable to treatment with compounds that can bypass the metabolic block. The pantothenate metabolite, 4'-phosphopantetheine (4'PPT), can serve as an alternative substrate for cellular CoA synthesis and may therefore be an essential nutrient in managing disorders where pantothenate cannot meet all metabolic requirements.
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- The SLC6A1 Connect organization was founded to support patients and families affected by a specific genetic disorder, providing resources and scientific insights into the condition.
- Amber Freed started the organization after her son Maxwell was diagnosed with a variant that affects motor development due to issues with the GABA transporter protein.
- The organization has successfully raised over two million dollars, created a supportive network, and hosts an annual symposium that connects families with researchers and biotech companies to advance treatment options.
In both children and adults, magnetic resonance imaging of the brain in cases of multiple sclerosis (MS) has typical indications, where one of the key points for differentiating between demyelinating processes and place-taking processes is the fact that most of the lesions that appear in multiple sclerosis do not cause a mass effect or much edema around them. There are several uncommon subtypes of multiple sclerosis that can appear specifically in adolescents, presenting with a stormy clinical course and accompanied by brain lesions that resemble space-occupying lesions. These include Marburg disease, Balò's concentric sclerosis, and tumefactive MS.
View Article and Find Full Text PDFBackground: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, neurodegenerative disorder that manifests with progressive loss of ambulation and refractory dystonia, especially in the early-onset classic form. This leads to osteopenia and stress on long bones, which pose an increased risk of atraumatic femur fractures. The purpose of this study is to describe the unique challenges in managing femur fractures in PKAN and the effect of disease manifestations on surgical outcomes.
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