Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome

Journal Article · Mon Feb 01 04:00:00 EST 1988 · J. Clin. Invest.; (United States)

DOI:https://doi.org/10.1172/JCI113353· OSTI ID:5442406

Gahl, W A; Bernardini, I; Dalakas, M; Rizzo, W B; Harper, G S; Hoeg, J M; Hurko, O; Bernar, J

11 children with either cystinosis or Lowe's syndrome had a reduced content of plasma and muscle carnitine due to renal Fanconi syndrome. After treatment with oral L-carnitine, 100 mg/kg per d divided every 6 h, plasma carnitine concentrations became normal in all subjects within 2 d. Initial plasma free fatty acid concentrations, inversely related to free carnitine concentrations, were reduced after 7-20 mo of carnitine therapy. Muscle lipid accumulation, which varied directly with duration of carnitine deficiency (r = 0.73), improved significantly in three of seven rebiopsied patients after carnitine therapy. One Lowe's syndrome patient achieved a normal muscle carnitine level after therapy. Muscle carnitine levels remained low in all cystinosis patients, even though cystinotic muscle cells in culture took up L-(/sup 3/H)carnitine normally. The half-life of plasma carnitine for cystinotic children given a single oral dose approximated 6.3 h; 14% of ingested L-carnitine was excreted within 24 h. Studies in a uremic patient with cystinosis showed that her plasma carnitine was in equilibrium with some larger compartment and may have been maintained by release of carnitine from the muscle during dialysis. Because oral L-carnitine corrects plasma carnitine deficiency, lowers plasma free fatty acid concentrations, and reverses muscle lipid accumulation in some patients, its use as therapy in renal Fanconi syndrome should be considered. However, its efficacy in restoring muscle carnitine to normal, and the optimal dosage regimen, have yet to be determined.

• Research Organization: National Institute of Child Health and Human Development, Bethesda, MD (USA)
• OSTI ID: 5442406
• Journal Information: J. Clin. Invest.; (United States), Journal Name: J. Clin. Invest.; (United States) Vol. 81:2; ISSN JCINA
• Country of Publication: United States
• Language: English

Related Subjects

550901* -- Pathology-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
AGE GROUPS
AMINO ACIDS
BIOLOGICAL HALF-LIFE
CARBOXYLIC ACIDS
CARNITINE
CHILDREN
CHOLESTEROL
DISEASES
ESTERS
HYDROXY ACIDS
HYDROXY COMPOUNDS
ISOTOPE APPLICATIONS
LABELLED COMPOUNDS
LIPIDS
MEMBRANE TRANSPORT
METABOLISM
MUSCLES
ORGANIC ACIDS
ORGANIC COMPOUNDS
PATIENTS
STEROIDS
STEROLS
THERAPY
TRACER TECHNIQUES
TRIGLYCERIDES
TRITIUM COMPOUNDS
UROGENITAL SYSTEM DISEASES
VITAMIN B GROUP
VITAMINS