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Unlabelled: Carnitine-acylcarnitine translocase deficiency is a rare and life-threatening mitochondrial fatty acid beta-oxidation disorder. We describe a patient who, despite a severe clinical course and an extremely low carnitine-acylcarnitine translocase activity, is currently alive and in good health. We performed an extensive analysis of all previously published cases in order to evaluate the clinical features and prognostic factors. Reports on 21 patients with carnitine-acylcarnitine translocase deficiency were obtained. Only 5 out of the 21 patients survived early childhood. At least 20 siblings are reported to have died of sudden unexplained death in the neonatal period. Although phenotype and residual enzyme activity have been suggested to be related to outcome, we were not able to establish such a relationship.Conclusion: Phenotype and residual enzyme activity do not appear to be major prognostic factors. Vigorous work-up in order to reach an expedite diagnosis and prompt medical intervention during acute episodes, especially in the neonatal period, may prevent fatal complications. [ABSTRACT FROM AUTHOR]

The aim of this study was to test whether formate is formed during α-oxidation of phytanic acid in humans. To a healthy volunteer, [1-C]phytanic acid was given as an oral substrate in a dose of 15 mg/kg body weight, after which plasma, urine and breath air samples were collected during 35 h. The plasma concentrations of [1-C]phytanic acid, 2-hydroxy[1-C]phytanic acid, pristanic acid and [C]formate were analysed. The [1-C]phytanic acid concentration increased within 5-7 h to 105 μmol/l, then decreased. Formation of 2-hydroxy[1-C]phytanic acid increased during the first 11 h after which it decreased during the next 20 h. Pristanic acid increased slightly during the test. In breath air, CO enrichment was measured, showing a cumulative output of ca. 30% of the ingested dose after 35 h. In both urine and plasma, enrichment of [C]formate, higher than that of CO was demonstrated. These findings show that formate is a decarboxylation product in the α-oxidation of phytanic acid in vivo. [ABSTRACT FROM AUTHOR]