Carnitine palmitoyl transferase II deficiency, neonatal form

General Information (adopted from Orphanet):

Synonyms, Signs: CPT II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL
CPT2 DEFICIENCY, LETHAL NEONATAL
Carnitine palmitoyl transferase deficiency type 2, neonatal form
Carnitine palmitoyl transferase deficiency type 2, lethal systemic form
CPTII, neonatal form
CPT2, neonatal form
Carnitine palmitoyl transferase II deficiency, lethal systemic form
CPTII, lethal systemic form
CPT2, lethal systemic form
Number of Symptoms 85
OrphanetNr: 228308
OMIM Id: 608836
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:0008293) Long-chain dicarboxylic aciduria 1 / 7739
2
 (HPO:0000126) Hydronephrosis 119 / 7739
3
 (HPO:0000073) Ureteral duplication 11 / 7739
4
 (HPO:0000105) Enlarged kidneys 30 / 7739
5
 (HPO:0000107) Renal cyst Very frequent [Orphanet] 126 / 7739
6
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
7
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
8
 (HPO:0000218) High palate 356 / 7739
9
 (HPO:0000414) Bulbous nose 63 / 7739
10
 (HPO:0000252) Microcephaly 832 / 7739
11
 (HPO:0000340) Sloping forehead 86 / 7739
12
 (HPO:0000348) High forehead 157 / 7739
13
 (HPO:0000189) Narrow palate 45 / 7739
14
 (HPO:0011220) Prominent forehead 137 / 7739
15
 (HPO:0000518) Cataract 454 / 7739
16
 (HPO:0000396) Overfolded helix 21 / 7739
17
 (HPO:0000369) Low-set ears 372 / 7739
18
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
19
 (HPO:0001254) Lethargy 104 / 7739
20
 (HPO:0012639) Abnormality of nervous system morphology Frequent [Orphanet] 25 / 7739
21
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
22
 (HPO:0006610) Wide intermamillary distance 46 / 7739
23
 (HPO:0006559) Hepatic calcification 2 / 7739
24
 (HPO:0001760) Abnormality of the foot 96 / 7739
25
 (HPO:0010511) Long toe 9 / 7739
26
 (HPO:0007229) Intracerebral periventricular calcifications 1 / 7739
27
 (HPO:0002987) Elbow flexion contracture 64 / 7739
28
 (HPO:0001182) Tapered finger 93 / 7739
29
 (HPO:0011309) Tapered toe 2 / 7739
30
 (HPO:0006380) Knee flexion contracture 56 / 7739
31
 (HPO:0002514) Cerebral calcification Frequent [Orphanet] 89 / 7739
32
 (HPO:0001562) Oligohydramnios Occasional [HPO:probinson] 75 / 7739
33
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
34
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
35
 (HPO:0001403) Macrovesicular hepatic steatosis 7 / 7739
36
 (HPO:0006561) Lipid accumulation in hepatocytes 1 / 7739
37
 (HPO:0011968) Feeding difficulties 240 / 7739
38
 (HPO:0002910) Elevated hepatic transaminases Very frequent [Orphanet] 11389301 IBIS 158 / 7739
39
 (HPO:0001800) Hypoplastic toenails 74 / 7739
40
 (HPO:0001640) Cardiomegaly Very frequent [Orphanet] 81 / 7739
41
 (HPO:0011675) Arrhythmia Very frequent [Orphanet] 226 / 7739
42
 (HPO:0001644) Dilated cardiomyopathy 141 / 7739
43
 (HPO:0007023) Antenatal intracerebral hemorrhage 1 / 7739
44
 (HPO:0001958) Nonketotic hypoglycemia 4 / 7739
45
 (HPO:0003455) Elevated long chain fatty acids 8 / 7739
46
 (HPO:0001943) Hypoglycemia Very frequent [Orphanet] 131 / 7739
47
 (HPO:0008315) Decreased plasma free carnitine 2 / 7739
48
 (HPO:0001987) Hyperammonemia 50 / 7739
49
 (HPO:0011936) Decreased plasma total carnitine 1 / 7739
50
 (HPO:0003573) Increased total bilirubin 10 / 7739
51
 (HPO:0002104) Apnea 106 / 7739
52
 (HPO:0002098) Respiratory distress 75 / 7739
53
 (HPO:0002878) Respiratory failure 57 / 7739
54
 (HPO:0002093) Respiratory insufficiency 410 / 7739
55
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
56
 (HPO:0009058) Increased muscle lipid content 6 / 7739
57
 (HPO:0001319) Neonatal hypotonia 101 / 7739
58
 (OMIM) Decreased tissue total and free carnitine 1 / 7739
59
 (OMIM) Long, tapering fingers 2 / 7739
60
 (OMIM) Severely decreased palmitate oxidation 1 / 7739
61
 (OMIM) Extra digital creases in digits 2-4 1 / 7739
62
 (OMIM) Oligohydramnios in some cases 1 / 7739
63
 (OMIM) Paraventricular cysts 1 / 7739
64
 (OMIM) Absence of CPT II protein 1 / 7739
65
 (OMIM) Increased tissue long-chain fatty acids 1 / 7739
66
 (OMIM) Thickened myocardium 2 / 7739
67
 (HPO:0006799) Basal ganglia cysts 6 / 7739
68
 (HPO:0045016) Elevated serum long-chain fatty acids 1 / 7739
69
 (HPO:0002269) Abnormality of neuronal migration 10 / 7739
70
 (OMIM) High, sloping forehead 2 / 7739
71
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
72
 (OMIM) Dysplastic renal parenchyma 1 / 7739
73
 (OMIM) Decreased plasma total and free carnitine 1 / 7739
74
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
75
 (OMIM) Increased tissue levels of triglycerides 1 / 7739
76
 (OMIM) Increased tissue long-chain acylcarnitines 1 / 7739
77
 (OMIM) Long, tapering toes 1 / 7739
78
 (HPO:0002119) Ventriculomegaly 253 / 7739
79
 (OMIM) Increased plasma long-chain acylcarnitines 1 / 7739
80
 (OMIM) Lipid accumulation in kidney, especially in proximal convoluted tubules 1 / 7739
81
 (HPO:0002126) Polymicrogyria 64 / 7739
82
 (OMIM) Lipid accumulation in heart 1 / 7739
83
 (OMIM) Cararacts 1 / 7739
84
 (OMIM) Severely decreased carnitine palmitoyltransferase II (CPT II) activity (less than 10% of normal) in multiple tissues 1 / 7739
85
 (OMIM) Increased tissue levels of free fatty acids 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis OMIM - Prenatal Diagnosis

Witt et al. (1991) performed prenatal diagnosis using fetal ultrasound, which detected polycystic kidneys, and oxidation studies on amniocytes, which showed less that 5% CPT II activity. In addition, long-chain acylcarnitine levels in ...
Clinical Description OMIM The lethal neonatal form was recognized by Hug et al. (1989, 1991) and Zinn et al. (1991), who described infants who died in the first days of life. The patient reported by Hug et al. (1989, 1991), who ...
Molecular genetics OMIM In 2 sibs with lethal neonatal CPT II deficiency originally reported by Witt et al. (1991), Gellera et al. (1992) identified a heterozygous 11-bp duplication in the CPT2 gene (600650.0012). The asymptomatic mother was heterozygous for the mutation, ...