current
CPT2:c.520G>A (p.Glu174Lys) AND Carnitine palmitoyltransferase II deficiency, infantile
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
In 2 Japanese sibs with the infantile form of CPT II deficiency (600649), Yamamoto et al. (1996) identified compound heterozygosity for 2 mutations in the CPT2 gene: a 621G-A transition resulting in a glu174-to-lys (E174K) substitution, and a 1249T-A transversion resulting in a phe383-to-tyr (F383Y; 600650.0007) substitution.
8682496
CPT2:c.520G>A (p.Glu174Lys)
NM_000098.2:c.520G>A
NG_008035.1:g.18766G>A
NC_000001.10:g.53675866G>A
NP_000089.1:p.Glu174Lys
missense
E174K
GLU174LYS
1p32.3
carnitine palmitoyltransferase 2
CPT2
Carnitine palmitoyltransferase II deficiency, infantile
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR
CPT II DEFICIENCY, HEPATIC
CPT2 DEFICIENCY, INFANTILE
Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are: lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form that is usually mild and can manifest from infancy to adulthood. While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and is the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.
<1 / 1 000 000
20301431
current
Pathogenic
germline
human
not provided
curation
In 2 Japanese sibs with the infantile form of CPT II deficiency (600649), Yamamoto et al. (1996) identified compound heterozygosity for 2 mutations in the CPT2 gene: a 621G-A transition resulting in a glu174-to-lys (E174K) substitution, and a 1249T-A transversion resulting in a phe383-to-tyr (F383Y; 600650.0007) substitution.
8682496
CPT2, GLU174LYS
GLU174LYS
CPT2
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE