Abstract |
Urinary carnitine esters were quantitated in an infant with medium-chain acylcoenzyme A dehydrogenase deficiency by means of a highly sensitive and specific radioisotopic exchange high-pressure liquid chromatography method. During fasting, the excretion of free carnitine and of acetylcarnitine, octanoylcarnitine, and hexanoylcarnitine was increased. The fractional tubular reabsorption of free carnitine was decreased, suggesting a renal leak of free carnitine. In the symptom-free, fed state, only minor amounts of free carnitine and of short-chain acylcarnitine, octanoylcarnitine, and hexanoylcarnitine were present in urine, and carnitine loss occurred in the form of "other" carnitine esters not exceeding that of control subjects. During L-carnitine therapy, the excretion of free carnitine, short-chain acylcarnitine, octanoylcarnitine, and hexanoylcarnitine, and particularly of "other" carnitine esters, was increased, suggesting a possible detoxifying effect of administered carnitine that is not confined to the elimination of octanoic and hexanoic acids. The employed method detects very low urinary concentrations of octanoylcarnitine and hexanoylcarnitine (less than 1 mumol/L) characteristic of medium-chain acyl-coenzyme A dehydrogenase deficiency and may be useful in screening for this disease, which has been associated with sudden infant death.
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Authors | E Schmidt-Sommerfeld, D Penn, J Kerner, L L Bieber, T M Rossi, E Lebenthal |
Journal | The Journal of pediatrics
(J Pediatr)
Vol. 115
Issue 4
Pg. 577-82
(Oct 1989)
ISSN: 0022-3476 [Print] United States |
PMID | 2795349
(Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- hexanoylcarnitine
- Acetylcarnitine
- Fatty Acid Desaturases
- Acyl-CoA Dehydrogenase
- octanoylcarnitine
- Carnitine
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Topics |
- Acetylcarnitine
(urine)
- Acyl-CoA Dehydrogenase
- Carnitine
(analogs & derivatives, analysis, therapeutic use, urine)
- Child
- Child, Preschool
- Chromatography, High Pressure Liquid
- Fasting
(physiology)
- Fatty Acid Desaturases
- Humans
- Infant
- Male
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