Publications by authors named "S J R Heales"
Background And Objectives: Disorders of coenzyme Q (CoQ) biosynthesis comprise a group of 11 clinically and genetically heterogeneous rare primary mitochondrial diseases. We sought to delineate clinical, biochemical, and neuroimaging features of these disorders, together with outcomes after oral CoQ supplementation and the utility of peripheral blood mononuclear cell (PBMNC) CoQ levels in monitoring therapy.
Methods: This was a retrospective cohort study, registered as an audit at a specialist pediatric hospital (Registration Number: 3318) of 14 patients with genetically confirmed CoQ biosynthesis deficiency, including 13 previously unreported cases.
Article Synopsis
- In a study on children with Phenylketonuria (PKU), casein glycomacropeptide (GMP) was compared to phenylalanine-free amino acids (AA) as a protein substitute, focusing on digestion and overall health effects.
- Results showed that GMP significantly improved gastrointestinal symptoms like stomach pain and bloating, although it did not have a major impact on other health markers like renal function or oxidative stress.
- However, GMP's higher phenylalanine content poses challenges for use as a sole protein source in PKU kids due to their low tolerance for phenylalanine.
Primary mitochondrial diseases (PMDs) are among the most common inherited neurological disorders. They are caused by pathogenic variants in mitochondrial or nuclear DNA that disrupt mitochondrial structure and/or function, leading to impaired oxidative phosphorylation (OXPHOS). One emerging subcategory of PMDs involves defective phospholipid (PL) metabolism.
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