|
Accession number;02A0492518
|
| Title;A Case of Carnitine Palmitoyltransferase II Deficiency. |
| Author;
YOSHIDA SHINOBU
(Choritsuishibeiryose Shonika)
OYA NORIAKI
(Shiga Univ. of Med. Sci.)
OTA SHIGERU
(Shiga Univ. of Med. Sci.)
TAKAHASHI HIROKO
(Seikokai, Kusatsu Sogo Byoin)
KONDO MASANORI
(Seikokai, Kusatsu Sogo Byoin)
TAKAYANAGI MASAKI
(Chibakenkodomobyoin Taishaka)
OGAWA EMI
(Chibakenkodomobyoin Taishaka)
|
Journal Title;Journal of the Japan Pediatric Society
|
Journal Code:F0896A
|
ISSN:0001-6543
|
|
VOL.106;NO.5;PAGE.684-687(2002)
|
| Figure&Table&Reference;TBL.2, REF.7 |
| Pub. Country;Japan |
| Language;Japanese |
| Abstract;Carnitine palmitoyltransferase (CPT II) deficiency is an inherited disorder of involvement of mitochondrial long-chain fatty-acid oxidation, and consists of two clinical phenotypes: an adult-onset (muscular) form and an infantile (hepatocardiomuscular) form. We report on a five-year-old boy with CPT II deficiency of the infantile form. The chief complaints were convulsion and loss of consciousness. He had developed frequent episodes of seizure diagnosed as febrile convulsion. At 11 months of age, he was diagnosed to have Reye syndrome. He has developed frequent episodes of nonketotic hypoglycemia, myoglobinuria, hypotonia and acute encephalopathy since then. An abnormally low level of plasma carnitine was observed at four years and 11 months of age. The diagnosis of CPT II deficiency was confirmed by long chain triglyceride overload test, carnitine overload test and an assay of enzyme activity of CPT II using cultured skin fibroblasts. Oral L-carnitine supplement therapy was effective, the patient did not develop a hypoglycemia attack, and has shown an improvement of hypotonia so far. (author abst.) |
|
|
|
Related Articles;
|
