Abstract
A 20-year-old woman had systemic carnitine deficiency. Biochemical studies of cultured fibroblasts, skeletal muscle mitochondria, and fluids showed no evidence of other disease that might deplete tissue carnitine stores. Carnitine supplementation produced a dramatic improvement in her clinical condition: she gained weight and strength and recovered brain function, which had deteriorated slightly after repeated episodes of encephalopathy. Lipid droplets disappeared from skeletal muscle and plasma, and muscle carnitine content rose from low to normal values. On treatment, she excreted less carnitine than controls. This form of systemic carnitine deficiency may be due to defective carnitine biosynthesis.
| Original language | English |
|---|---|
| Pages (from-to) | 157-162 |
| Number of pages | 6 |
| Journal | Neurology |
| Volume | 34 |
| Issue number | 2 |
| Publication status | Published - 1984 |
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ASJC Scopus subject areas
- Arts and Humanities (miscellaneous)
- Clinical Neurology
- Neuroscience(all)
Cite this
Systemic carnitine deficiency : Clinical, biochemical, and morphological cure with L-carnitine. / Di Donato, Stefano; Pelucchetti, Dionisio; Rimoldi, Marco; Mora, Marina; Garavaglia, Barbara; Finocchiaro, Gaetano.
In: Neurology, Vol. 34, No. 2, 1984, p. 157-162.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Systemic carnitine deficiency
T2 - Clinical, biochemical, and morphological cure with L-carnitine
AU - Di Donato, Stefano
AU - Pelucchetti, Dionisio
AU - Rimoldi, Marco
AU - Mora, Marina
AU - Garavaglia, Barbara
AU - Finocchiaro, Gaetano
PY - 1984
Y1 - 1984
N2 - A 20-year-old woman had systemic carnitine deficiency. Biochemical studies of cultured fibroblasts, skeletal muscle mitochondria, and fluids showed no evidence of other disease that might deplete tissue carnitine stores. Carnitine supplementation produced a dramatic improvement in her clinical condition: she gained weight and strength and recovered brain function, which had deteriorated slightly after repeated episodes of encephalopathy. Lipid droplets disappeared from skeletal muscle and plasma, and muscle carnitine content rose from low to normal values. On treatment, she excreted less carnitine than controls. This form of systemic carnitine deficiency may be due to defective carnitine biosynthesis.
AB - A 20-year-old woman had systemic carnitine deficiency. Biochemical studies of cultured fibroblasts, skeletal muscle mitochondria, and fluids showed no evidence of other disease that might deplete tissue carnitine stores. Carnitine supplementation produced a dramatic improvement in her clinical condition: she gained weight and strength and recovered brain function, which had deteriorated slightly after repeated episodes of encephalopathy. Lipid droplets disappeared from skeletal muscle and plasma, and muscle carnitine content rose from low to normal values. On treatment, she excreted less carnitine than controls. This form of systemic carnitine deficiency may be due to defective carnitine biosynthesis.
UR - http://www.scopus.com/inward/record.url?scp=0021349293&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0021349293&partnerID=8YFLogxK
M3 - Article
C2 - 6538002
AN - SCOPUS:0021349293
VL - 34
SP - 157
EP - 162
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 2
ER -