Carnitine palmitoyl transferase II deficiency, severe infantile form

General Information (adopted from Orphanet):

Synonyms, Signs: CPT2 DEFICIENCY, INFANTILE
CPT II DEFICIENCY, HEPATIC
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR
Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
CPT2, hepatocardiomuscular form
CPT2, severe infantile form
CPTII, hepatocardiomuscular form
CPTII, severe infantile form
Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, severe infantile form
Number of Symptoms 26
OrphanetNr: 228305
OMIM Id: 600649
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: Neonatal
Infancy
[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:0001254) Lethargy 104 / 7739
2
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
3
 (HPO:0001399) Hepatic failure Occasional [Orphanet] 80 / 7739
4
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
5
 (HPO:0002013) Vomiting 191 / 7739
6
 (HPO:0002910) Elevated hepatic transaminases 1999498 IBIS 158 / 7739
7
 (HPO:0001403) Macrovesicular hepatic steatosis 7 / 7739
8
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
9
 (HPO:0001640) Cardiomegaly 81 / 7739
10
 (HPO:0001644) Dilated cardiomyopathy 141 / 7739
11
 (HPO:0011675) Arrhythmia Frequent [Orphanet] 226 / 7739
12
 (HPO:0001638) Cardiomyopathy Very frequent [Orphanet] 192 / 7739
13
 (HPO:0001943) Hypoglycemia Very frequent [Orphanet] 131 / 7739
14
 (HPO:0001985) Hypoketotic hypoglycemia 11 / 7739
15
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
16
 (HPO:0001987) Hyperammonemia 50 / 7739
17
 (HPO:0005943) Respiratory arrest 5 / 7739
18
 (HPO:0003198) Myopathy Frequent [Orphanet] 151 / 7739
19
 (OMIM) Reduced total and free carnitine in plasma and tissue 1 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
 (OMIM) Decreased carnitine palmitoyltransferase II (CPT2) activity 1 / 7739
22
 (OMIM) Increased long-chain acylcarnitine 2 / 7739
23
 (HPO:0003593) Infantile onset 249 / 7739
24
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
25
 (OMIM) Decreased palmitate oxidation 1 / 7739
26
 (OMIM) Decreased levels of CPT2 protein 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Demaugre et al. (1991) reported a male infant, born of first-cousin parents, who presented at 3 months of age with lethargy, respiratory arrest, and seizures following a febrile illness. He had mild hepatomegaly and cardiomegaly, as well as ...
Molecular genetics OMIM In a patient with infantile CPT II deficiency, Taroni et al. (1992) identified a homozygous mutation in the CPT2 gene (600650.0001).

In the patient with infantile CPT II deficiency reported by Demaugre et al. (1991), Bonnefont ...