The clinical, laboratory, and pathologic findings in a patient with a previously undescribed deficiency in fatty acid oxidation are summarized. The patient had a fatal defect in fatty acid metabolism profoundly affecting heart, skeletal muscle, liver, and kidney. Oxidation of palmitate was 38-51% of controls. Complementation assays demonstrated that the patient's fibroblasts complemented fibroblast lines from all known defects in fatty acid oxidation except long-chain acyl-CoA dehydrogenase deficiency. Urine and serum carnitine profiles also were indicative of a defect in the oxidation of long-chain substrate; however, the palmitoyl-CoA dehydrogenase activity was actually increased. This finding indicates that the patient had a defect that was distinct from, but possibly related to, long-chain acyl-CoA dehydrogenase deficiency. This patient demonstrates the laboratory and pathologic findings in defects in fatty acid oxidation and how they differ from those in Reye syndrome.

Acyl-CoA Dehydrogenase, Long-Chain↗

PubMedDate not supplied

Carnitine and lipid emulsion metabolism in premature infants.

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Carnitine↗

PubMedDate not supplied

Monitoring change in diabetes care using diabetes registers--experience from divisions of general practice.

BACKGROUND: The quality of care for patients with type 2 diabetes has been the subject of a number of government initiatives over the past decade. General practice has an especially important role in diabetes care. METHODS: The National Integrated Diabetes Program was introduced in 2001. Changes in the frequency of assessment and the physiological markers of diabetic control were assessed in a cohort of 2731 patients with type 2 diabetes from 16 general practice diabetes registers during 2000-2002. RESULTS: Frequency of assessment was better in patients living in low socioeconomic postcodes but did not change significantly over the 3 years. There were improvements in intermediate outcomes (HbA1c, systolic and diastolic blood pressure, lipid levels) over the period. DISCUSSION: These data provide a benchmark for improvement in the quality of diabetes care in general practice.

Adult↗

PubMedDate not supplied

Primary systemic carnitine deficiency under successful therapy: clinical, biochemical, ultrahistochemical and renal clearance studies.

Systemic carnitine deficiency is an often fatal, but treatable metabolic disorder which should be considered in any child with repeated episodes of a Reye-like syndrome or a cardiomyopathy. A 4-year-old girl with a typical history and clinical findings was successfully treated with oral carnitine. Despite low liver carnitine, ketogenesis upon fasting was normal. Normal muscle function under therapy was associated with unchanged low muscle carnitine levels. Improvement of mitochondrial structure and function was demonstrated by controlled ultrahistochemical studies. A renal carnitine leak, evident from renal clearance studies, may contribute to the pathogenesis of systemic carnitine deficiency.

Biopsy↗