Hyperammonemia related to carnitine metabolism with particular emphasis on ornithine transcarbamylase deficiency.
Carnitine status was evaluated in 8 patients with partial ornithine transcarbamylase (OTC) deficiency and 19 patients with secondary carnitine deficiency, who were used as positive references. Laboratory findings indicated that all patients with OTC deficiency had secondary carnitine deficiency especially in hyperammonemic attack. After L-carnitine administration in 2 patients with OTC deficiency, the number of attacks was significantly reduced in both cases.
Matsuda
I
I
Department of Pediatrics, Kumamoto University Medical School, Japan.
Ohtani
Y
Y
Ohyanagi
K
K
Yamamoto
S
S
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000378:metabolism* / Q000628:therapy; D000641:Ammonia / Q000097:blood*; D001565:Benzoates / Q000627:therapeutic use; D019817:Benzoic Acid; D002331:Carnitine / Q000378:metabolism* / Q000627:therapeutic use; D002648:Child; D004044:Dietary Proteins / Q000008:administration & dosage; D006801:Humans; D012202:Reye Syndrome / Q000378:metabolism / Q000503:physiopathology
D001565:Benzoates; D004044:Dietary Proteins; D000641:Ammonia; D019817:Benzoic Acid; D002331:Carnitine