Publications by authors named "J Vockley"
Germline inactivating mutations of the SLC25A1 gene contribute to various human disorders, including Velocardiofacial (VCFS), DiGeorge (DGS) syndromes and combined D/L-2-hydroxyglutaric aciduria (D/L-2HGA), a severe systemic disease characterized by the accumulation of 2-hydroxyglutaric acid (2HG). The mechanisms by which SLC25A1 loss leads to these syndromes remain largely unclear. Here, we describe a mouse model of SLC25A1 deficiency that mimics human VCFS/DGS and D/L-2HGA.
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- * The PAH Deficiency Guideline Workgroup developed recommendations highlighting the importance of lifelong treatment, better outcomes with controlled Phe levels, and the necessity of genetic testing at birth.
- * The conclusion emphasizes maintaining phenylalanine levels at or below 360 μmol/L to improve intellectual outcomes and minimize potential risks during pregnancy.
Article Synopsis
- The MMPOWER-3 clinical trial initially found no overall benefit of elamipretide for adults with primary mitochondrial myopathy, but a subgroup with nuclear DNA variants showed improvement in a six-minute walk test.
- A large portion of the trial subjects had mitochondrial DNA variants, with particular improvements noted among those possessing pathogenic variants related to mtDNA maintenance.
- Further analyses aim to identify trends among responders to assist in designing a more targeted Phase 3 trial for those likely to benefit from elamipretide.
The metabolic genetics clinic is a crucial hub for the management of patients with inborn errors of metabolism and other complex genetic conditions. Because more patients are being identified due to the expanded diagnostics, including newborn screening, and living longer with the advent of improved therapies, the multidisciplinary metabolic genetics team has been challenged in growing proportionally to meet patients' needs. Insufficient rates of recruitment to the field and increased levels of attrition have led to concerns about a rising shortage of metabolic genetics health care providers and necessitate creative solutions to grow the workforce.
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