Carnitine palmitoyl transferase II deficiency, myopathic form

General Information (adopted from Orphanet):

Synonyms, Signs: CPT II DEFICIENCY, MYOPATHIC
CPT2 DEFICIENCY, LATE-ONSET
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ADULT-ONSET
Carnitine palmitoyl transferase II deficiency, adult-onset form
CPTII, adult-onset form
CPT2, myopathic form
Carnitine palmitoyl transferase deficiency type 2, myopathic form
CPTII, myopathic form
CPT2, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, adult-onset form
Number of Symptoms 15
OrphanetNr: 228302
OMIM Id: 255110
ICD-10: E71.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Carnitine palmitoyl transferase II deficiency
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
2
(HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
3
(HPO:0003394) Muscle cramps 106 / 7739
4
(HPO:0003011) Abnormality of the musculature Very frequent [Orphanet] 47 / 7739
5
(HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
6
(HPO:0003552) Muscle stiffness 23 / 7739
7
(HPO:0003201) Rhabdomyolysis 27 / 7739
8
(HPO:0003326) Myalgia Very frequent [Orphanet] 143 / 7739
9
(OMIM) Impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise 1 / 7739
10
(OMIM) Muscle weakness following prolonged exercise 1 / 7739
11
(OMIM) Carnitine palmitoyltransferase II deficiency (25% of controls) 1 / 7739
12
(OMIM) Exercise myoglobinuria 1 / 7739
13
(OMIM) Normal plasma and tissue carnitine 1 / 7739
14
(HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
15
(OMIM) Creatine kinase normal between episodes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Carnitine palmitoyltransferase II deficiency is the most common inherited disorder of mitochondrial long-chain fatty acid oxidation. The most common 'classic' myopathic form occurs in young adults and is characterized by recurrent episodes of rhabdomyolysis triggered by prolonged exercise, ...
Diagnosis OMIM Gempel et al. (2002) compared the tandem mass spectra of serum acylcarnitines of 9 CPT II-deficient patients to those of a cohort of 99 patients with other neuromuscular disorders and metabolic conditions. The spectra in CPT II deficiency ...
Clinical Description OMIM Engel et al. (1970) reported 18-year-old identical twin sisters who experienced muscle aching with myoglobinuria, sometimes induced by exercise, from early childhood. Fasting, or high-fat low-carbohydrate isocaloric diet, induced muscle aches and a marked rise in serum muscle ...
Molecular genetics OMIM In 8 unrelated patients with familial recurrent hemoglobinuria and CPT II deficiency, Taroni et al. (1993) identified a homozygous mutation in the CPT2 gene (S113L; 600650.0002). One of the patients had been reported by DiDonato et al. (1978). ...