ORPHA:157
Carnitine palmitoyltransferase II deficiency
Synonyms: CPT2 · CPTII · Carnitine palmitoyltransferase deficiency type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carnitine palmitoyltransferase II deficiency | CPT2 · CPTII · Carnitine palmitoyltransferase deficiency type 2 |
| fr | Déficit en carnitine palmitoyltransférase II | CPT2 · CPTII · Déficit en carnitine palmitoyltransférase type 2 |
| de | Carnitin-Palmitoyl-Transferase II-Mangel | CPT II-Mangel |
| es | Deficiencia de carnitina palmitoiltransferasa II | |
| it | Deficit di carnitina-palmitoil transferasi 2 | |
| nl | Deficiëntie van carnitinepalmitoyltransferase II | CPT2 · CPTII · Carnitinepalmitoyltransferase-II-deficiëntie · Deficiëntie van carnitinepalmitoyltransferase type 2 |
| pt | Deficiência de carnitina palmitoiltransferase 2 | |
| pl | Niedobór palmitylotransferazy karnityny II | CPT2 · CPTII · Niedobór palmitylotransferazy karnityny 2 |
| cs | Deficit karnitinpalmitoyltransferázy II | CPT2 · CPTII · Deficit karnitinpalmitoytransferázy, typ II |
| uk | Дефіцит карнітинпальмітоілтрансферази II | Дефіцит карнітинпальмітоілтрансферази 2 типу · CPT2 · CPTII |
| zh | 肉毒碱棕榈酰转移酶II缺乏症 | 肉毒碱棕榈酰转移酶缺乏症2型 |
| tr | Karnitin palmitoiltransferaz II eksikliği | CPT2 · CPTII · Karnitin palmitoiltransferaz eksikliği tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 255110 | BTNT | validated | |
| OMIM | 600649 | BTNT | validated | |
| OMIM | 608836 | BTNT | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.00 | NTBT | index | validated |
| MONDO | 0015515 | E | validated | |
| MeSH | C535589 | E | validated | |
| UMLS | C0342790 | E | validated | |
| GARD | 1121 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:309130Disorder of carnitine cycle and carnitine transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206953Muscular lipidosis
rare genetic diseases; rare neurological diseases
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Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CPT2 | ORPHA:228302Carnitine palmitoyl transferase II deficiency, myopathic form | Disease-causing germline mutation(s) in | Assessed | HGNC:2330 | ENSG00000157184 | 600650 | 1p32.3 | carnitine palmitoyltransferase 2 | |
| CPT2 | ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile form | Disease-causing germline mutation(s) in | Assessed | HGNC:2330 | ENSG00000157184 | 600650 | 1p32.3 | carnitine palmitoyltransferase 2 | |
| CPT2 | ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form | Disease-causing germline mutation(s) in | Assessed | HGNC:2330 | ENSG00000157184 | 600650 | 1p32.3 | carnitine palmitoyltransferase 2 |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Worldwide | Value and class | Validated | 39473663[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | United States | Value and class | Validated | 22766612[PMID] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2015[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
42 annotations · validated 2020-04-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001324 | Muscle weakness | |
| HP:0003326 | Myalgia | |
| HP:0012380 | Reduced carnitine O-palmitoyltransferase activity | |
| Frequent (79-30%) | ||
| HP:0008315 | Decreased plasma free carnitine | |
| HP:0011936 | Decreased plasma total carnitine | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0045045 | Elevated plasma acylcarnitine levels | |
| HP:0003546 | Exercise intolerance | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0003077 | Hyperlipidemia | |
| HP:0002913 | Myoglobinuria | |
| HP:0003198 | Myopathy | |
| HP:0040320 | Red-brown urine | |
| Occasional (29-5%) | ||
| HP:0003449 | Cold-induced muscle cramps | |
| HP:0002574 | Episodic abdominal pain | |
| HP:0003710 | Exercise-induced muscle cramps | |
| HP:0002315 | Headache | |
| HP:0002240 | Hepatomegaly | |
| HP:0011964 | Intermittent painful muscle spasms | |
| HP:0008682 | Renal tubular epithelial necrosis | |
| HP:0003201 | Rhabdomyolysis | |
| HP:0001250 | Seizure | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| HP:0001970 | Tubulointerstitial nephritis | |
| Very rare (<4-1%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0011675 | Arrhythmia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0002514 | Cerebral calcification | |
| HP:0001259 | Coma | |
| HP:0000800 | Cystic renal dysplasia | |
| HP:0006559 | Hepatic calcification | |
| HP:0001399 | Hepatic failure | |
| HP:0000238 | Hydrocephalus | |
| HP:0001985 | Hypoketotic hypoglycemia | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0001302 | Pachygyria | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0002126 | Polymicrogyria | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301431[PMID]_28054946[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157
- This record as JSON: /data/d/157.json