Short-chain 3-hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency (OMIM #231530) represents a recently described disorder of mitochondrial fatty acid beta-oxidation, with less than ten cases described worldwide. The main clinical presentation of this metabolic disease is different from other inherited defects of fatty acid β-oxidation as the hypoglycemia is associated with hyperinsulinism. We present the clinical, biochemical and molecular findings of four new Caucasian patients with HADH deficiency. These new cases contribute to a more comprehensive description of the phenotype, diagnostic biomarkers and treatment options for this poorly defined disease.
Objectives: To evaluate whether Mediterranean style diet (MedSD) is associated with better physical performance. There is evidence from large epidemiological studies that MedSD associates with lower risk of chronic disease and mortality. Poor functional capacity, partially affected by poor physical performance, also predicts higher morbidity and mortality resulting in higher healthcare costs. Design: One group, longitudinal pilot clinical intervention trial of 24 weeks total; 12 weeks observation followed by 12 weeks intervention in 16 postmenopausal women (age>65 y) evaluating effects on physical performance. Setting: Outpatient clinical research center. Participants: 16 postmenopausal women (age>65 y) selected for typical American diet. Intervention: Women consumed their typical diet for 12 weeks followed by a 12-week MedSD intervention. A registered dietitian counseled the subjects to make 4 dietary changes: 1) incorporate 3 tablespoons Extra Virgin Olive Oil (EVOO) daily; 2) include 3-5 servings/week of high omega-3 fish (salmon or tuna); 3) incorporate 1.5 ounces of walnuts daily; 4) incorporate increased amounts of fruits, vegetables and whole grains. Measurement: Food frequency questionnaire scores, 3-day diet record, serum total fatty acids, anthropometry, physical activity, functional capacity (chair rise time, single leg time, hand grip strength were measured. Pre-post analysis compared the 2 weeks typical diet period with the 2 weeks MedSD intervention period. Correlations were used to relate dietary change to physical performance change. Results: Diet analysis revealed adherence to the MedSD (p = < 0.001). No significant differences were observed in hand grip strength or the Short Physical Performance Battery. Significant correlations were found between change in chair rise time and changes in intake of carbohydrates (r= 0.587) and trans and saturated fat (r= 0.818). Inability to identify other significant correlations in primary outcomes was likely affected by small sample size and physically robust participant group. Conclusions: Alterations in consumption patterns to adhere to a MedSD, including reductions in saturated fat and carbohydrate consumption, correlate with improvement in chair rise time. This study design can be used for future studies with a larger group of frailer, older adults to assess the effect of MedSD on physical performance.
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