Molecular analysis in spanish patients with muscle carnitine palmitoyltransferase deficiency

"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child

“…In our patient a signi®cantly reduced boxidation activity of 28% was found. This intermediate activity ®ts well to the clinical picture of an isolated muscular phenotype in which a severe metabolic derangement is absent and to the S113L substitution which is typically associated with a mild myopathic phenotype in adolescence [11,13]. Homozygosity for the S113L substitution, however, does not exclude an Fig.…”

“…The S113L substitution accounts for more than 60% of all aected alleles in certain populations [11,13]. In addition, distinct mutations are found in conjunction with the``severe infantile'' or the``milder adult'' form of CPT-II de®ciency [14].…”

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

“…Subset one includes seventeen mutations, of which only three have been reported in a homozygous state (''mild'' mutations P50H, S113L, R161W). The Verderio et al (1995) 2 216G > C/T L72F Ijlst et al (1998) 3 338C > T S113L b Taroni et al (1993) Deschauer et al (2003) 4 359A > G Y120C Martin et al (1999Martin et al ( , 2000 fourteen others are predominantly located in exon 4, and all are associated with S113L (exon 3) or P50H (exon 1) in compound heterozygous patients. Subset two consists of eight mutations, five of which have been reported at a homozygous state (''severe'' mutations R151Q, P227L, D328G, R382K, F383Y).…”

Muscle Carnitine Palmitoyltransferase II Deficiency

“…In a series of 14 Spanish patients with muscle CPT II deficiency, 14% also had no history of myoglobinuria. 12 The early meta-analysis 8 revealed that myoglobinuria was present in nearly all patients (97%). This difference might be because we screened more patients without myoglobinuria for CPT II deficiency.…”