Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency.
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| Abstract |
An infant girl presented with recurrent episodes of Reye-like syndrome associated with hypoketosis and plasma carnitine levels in the high-normal range. A liver biopsy revealed massive macrovesicular steatosis. Ketogenesis was absent after a long-chain triglyceride loading test; in contrast, the medium-chain triglyceride loading test resulted in a brisk rise in plasma ketone concentration. Carnitine palmitoyltransferase I deficiency was demonstrated in cultured skin fibroblasts. Hypoglycemia was only found once in the neonatal period. Renal carnitine handling was normal except for a higher renal threshold for free carnitine. Mild, persistent metabolic acidosis was a constant feature, even during periods between metabolic decompensation. Evaluation of the renal acidification capacity showed a failure to acidify the urine during spontaneous acidosis but increased acid excretion and a normal decrease of urinary pH after acid loading. Also, a small difference between urine and blood PCO2 was found after bicarbonate administration. This acidification defect can best be explained as an abnormality in distal tubular H+ secretion: a rate-dependent distal tubular acidosis.off is speculated that long-chain acylcarnitines, substances that cannot be formed by carnitine palmitoyltransferase I-deficient patients, play an essential role in renal acid-base homeostasis.
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| Authors | A J Bergman, R A Donckerwolcke, M Duran, J A Smeitink, B Mousson, C Vianey-Saban, B T Poll-The |
| Journal | Pediatric research (Pediatr Res) Vol. 36 Issue 5 Pg. 582-8 (Nov 1994) ISSN: 0031-3998 [Print] United States |
| PMID | 7877875 (Publication Type: Case Reports, Comparative Study, Journal Article, Review) |
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