The most common form of carnitine palmitoyltransferase II (CPT II) deficiency occurs in adults and is characterized by muscle pain, stiffness, and myoglobinuria, triggered by exercise, fasting, or other metabolic stress. This study reports the molecular heterogeneity of CPT2 mutations and their bioc
✦ LIBER ✦
Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death
✍ Scribed by Raquel Yahyaoui; María Gracia Espinosa; Celia Gómez; Anita Dayaldasani; Inmaculada Rueda; Ana Roldán; Magdalena Ugarte; Gonzalo Lastra; Vidal Pérez
- Book ID
- 116989349
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 139 KB
- Volume
- 104
- Category
- Article
- ISSN
- 1096-7192
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## Carnitine palmitoyltransferase II (CPT II) deficiency manifests as two different clinical phenotypes: a muscular form and a hepatic form. We have investigated three nonconsanguineous Japanese patients with CPT II deficiency. Molecular analysis revealed two missense mutations, a glutamate (174)to
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