ORPHA:228305
Carnitine palmitoyl transferase II deficiency, severe infantile form
Synonyms: CPTII, severe infantile form · Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form · Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form · Carnitine palmitoyl transferase deficiency type 2, severe infantile form · CPT2, hepatocardiomuscular form · CPT2, severe infantile form · CPTII, hepatocardiomuscular form
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carnitine palmitoyl transferase II deficiency, severe infantile form | CPTII, severe infantile form · Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form · Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form · Carnitine palmitoyl transferase deficiency type 2, severe infantile form · CPT2, hepatocardiomuscular form · CPT2, severe infantile form · CPTII, hepatocardiomuscular form |
| fr | Déficit en carnitine palmitoyltransférase II, forme infantile sévère | CPT2 forme hépatocardiomusculaire · CPT2 forme infantile sévère · CPTII forme hépatocardiomusculaire · CPTII forme infantile sévère · Déficit en carnitine palmitoyltransférase II, forme hépatocardiomusculaire · Déficit en carnitine palmitoyltransférase type 2, forme hépatocardiomusculaire · Déficit en carnitine palmitoyltransférase type 2, forme infantile sévère |
| de | Carnitin-Palmitoyl-Transferase II-Mangel, schwere infantile Form | CPT2, hepatokardiomuskuläre Form · CPT2, schwere infantile Form · CPTII, hepatokardiomuskuläre Form · CPTII, schwere infantile Form · Carnitin-Palmitoyl-Transferase II-Mangel, hepatokardiomuskuläre Form · Carnitin-Palmitoyl-Transferase-Mangel Typ 2, hepatokardiomuskuläre Form · Carnitin-Palmitoyl-Transferase-Mangel Typ 2, schwere infantile Form |
| es | Deficiencia de carnitina palmitoiltransferasa II, forma grave infantil | CPT2, forma grave infantil · CPT2, forma hepatocardiomuscular · CPTII, forma grave infantil · CPTII, forma hepatocardiomuscular · Deficiencia de carnitina palmitoiltransferasa II, forma hepatocardiomuscular · Deficiencia de carnitina palmitoiltransferasa tipo 2, forma grave infantil · Deficiencia de carnitina palmitoiltransferasa tipo 2, forma hepatocardiomuscular |
| it | Deficit di carnitina-palmitoil transferasi II, forma infantile grave | CPT2, forma epato-cardio-muscolare · CPT2, forma infantile grave · CPTII, forma epato-cardio-muscolare · CPTII, forma infantile grave · Deficit di carnitina-palmitoil transferasi II, forma epato-cardio-muscolare · Deficit di carnitina-palmitoil transferasi tipo 2, forma infantile grave · Deficit di carnitina-palmitoil transferasi tipo 2, tipo epato-cardio-muscolare |
| nl | Carnitinepalmitoyltransferase II-deficiëntie, ernstige infantiele vorm | CPT2, ernstige infantiele vorm · CPT2, hepatocardiomusculaire vorm · CPTII, ernstige infantiele vorm · CPTII, hepatocardiomusculaire vorm · Carnitinepalmitoyltransferase II-deficiëntie, hepatocardiomusculaire vorm · Carnitinepalmitoyltransferasedeficiëntie type 2, ernstige infantiele vorm · Carnitinepalmitoyltransferasedeficiëntie type 2, hepatocardiomusculaire vorm |
| pt | Deficiência da carnitina-palmitoil transferase 2, forma grave do latente | |
| pl | Niedobór palmitylotransferazy karnityny II, ciężka postać dziecięca | CPT2, ciężka postać dziecięca · CPT2, postać wątrobowo-sercowo-mięśniowa · CPTII, ciężka postać dziecięca · CPTII, postać wątrobowo-sercowo-mięśniowa · Niedobór palmitylotransferazy karnityny II, postać wątrobowo-sercowo-mięśniowa · Niedobór palmitylotransferazy karnityny typu 2, ciężka postać dziecięca · Niedobór palmitylotransferazy karnityny typu 2, postać wątrobowo-sercowo-mięśniowa |
| cs | Deficit karnitinpalmitoyltransferázy II, těžká infantilní forma | CPT2, hepatokardiomuskulární forma · CPTII, hepatokardiomuskulární forma · Deficit karnitin palmitoyl transferázy II, hepatokardiomuskulární forma · Deficit karnitin palmitoyl transferázy 2, hepatokardiomuskulární forma · CPT2, těžká infantilní forma · CPTII, těžká infantilní forma |
| uk | Дефіцит карнітинпальмітоілтрансферази ІІ, тяжка інфантильна форма | Дефіцит карнітинпальмітоїлтрансферази 2 типу, гепатокардіомязова форма · Дефіцит карнітинпальмітоїлтрансферази 2 типу, тяжка дитяча форма · Дефіцит карнітинпальмітоілтрансферази II, гепатокардіомязова форма · СРТ2, гепатокардіомязова форма · CPT2, важка дитяча форма · CPTII, гепатокардіомязова форма · CPTII, важка дитяча форма |
| zh | 重症婴儿型肉碱棕榈酰转移酶II缺乏症 | 肝-心肌型CPTII |
| tr | Karnitin palmitoil transferaz II eksikliği, ağır infantil form | Karnitin palmitoil transferaz II eksikliği, hepatokardiyomüsküler form · Karnitin palmitoil transferaz eksikliği tip 2, ağır infantil form · Karnitin palmitoil transferaz eksikliği tip 2, hepatokardiyomüsküler form · CPT2, ağır infantil formu · CPTII, ağır infantil formu · CPT2, hepatokardiyomüsküler form · CPTII, hepatokardiyomüsküler form |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600649 | E | validated | |
| ICD-10 | E71.3 | NTBT | attributed | validated |
| ICD-11 | 5C52.00 | NTBT | index | validated |
| MONDO | 0010914 | E | validated | |
| MeSH | C563462 | E | validated | |
| UMLS | C1833511 | 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 (1):
- ORPHA:157Carnitine palmitoyltransferase II deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CPT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2330 | ENSG00000157184 | 600650 | 1p32.3 | carnitine palmitoyltransferase 2 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 families | Worldwide | Family(ies) | Validated | 20301431[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301431[PMID] |
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
29 annotations · validated 2020-04-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012380 | Reduced carnitine O-palmitoyltransferase activity | |
| Frequent (79-30%) | ||
| HP:0003449 | Cold-induced muscle cramps | |
| 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:0002574 | Episodic abdominal pain | |
| HP:0003546 | Exercise intolerance | |
| HP:0003710 | Exercise-induced muscle cramps | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0002315 | Headache | |
| HP:0011964 | Intermittent painful muscle spasms | |
| HP:0001324 | Muscle weakness | |
| HP:0003326 | Myalgia | |
| HP:0002913 | Myoglobinuria | |
| HP:0003198 | Myopathy | |
| HP:0040320 | Red-brown urine | |
| Occasional (29-5%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001399 | Hepatic failure | |
| HP:0001397 | Hepatic steatosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0006929 | Hypoglycemic encephalopathy | |
| HP:0001985 | Hypoketotic hypoglycemia | |
| HP:0003201 | Rhabdomyolysis | |
| HP:0001250 | Seizure | |
| HP:0001714 | Ventricular hypertrophy | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 18550408[PMID]_20301431[PMID]_28054946[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228305
- This record as JSON: /data/d/228305.json