Peroxisomal acyl-CoA oxidase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: PSEUDONEONATAL ADRENOLEUKODYSTROPHY
Pseudo-neonatal adrenoleukodystrophy
Pseudo-NALD
Pseudoadrenoleukodystrophy
STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY
Number of Symptoms 66
OrphanetNr: 2971
OMIM Id: 264470
ICD-10: E71.3
UMLs: C0342871
C1849678
MeSH: C536662
MedDRA:
Snomed: 238069004

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Peroxisomal beta-oxidation disorder
 -Rare genetic disease
Peroxisomal disease with epilepsy
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
2
 (HPO:0000248) Brachycephaly 222 / 7739
3
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
4
 (HPO:0000431) Wide nasal bridge 290 / 7739
5
 (HPO:0002007) Frontal bossing 366 / 7739
6
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
7
 (HPO:0000654) Decreased light- and dark-adapted electroretinogram amplitude 17 / 7739
8
 (HPO:0000512) Abnormal electroretinogram Very frequent [Orphanet] 61 / 7739
9
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
10
 (HPO:0000580) Pigmentary retinopathy 49 / 7739
11
 (HPO:0000648) Optic atrophy 238 / 7739
12
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
13
 (HPO:0000649) Abnormality of visual evoked potentials Very frequent [Orphanet] 34 / 7739
14
 (HPO:0000547) Tapetoretinal degeneration 11 / 7739
15
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
16
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
17
 (HPO:0000369) Low-set ears 372 / 7739
18
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
19
 (HPO:0008619) Bilateral sensorineural hearing impairment 23 / 7739
20
 (HPO:0011344) Severe global developmental delay 46 / 7739
21
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
22
 (HPO:0003487) Babinski sign 179 / 7739
23
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
24
 (HPO:0010864) Intellectual disability, severe 120 / 7739
25
 (HPO:0001332) Dystonia 197 / 7739
26
 (HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
27
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
28
 (HPO:0012639) Abnormality of nervous system morphology Very frequent [Orphanet] 25 / 7739
29
 (HPO:0001263) Global developmental delay 853 / 7739
30
 (HPO:0002015) Dysphagia 301 / 7739
31
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
32
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
33
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
34
 (HPO:0008763) No social interaction 1 / 7739
35
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
36
 (HPO:0002376) Developmental regression 74 / 7739
37
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
38
 (HPO:0000737) Irritability 93 / 7739
39
 (HPO:0003186) Inverted nipples 15 / 7739
40
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
41
 (HPO:0006555) Diffuse hepatic steatosis 1 / 7739
42
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
43
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
44
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
45
 (HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
46
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
47
 (HPO:0001319) Neonatal hypotonia 101 / 7739
48
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
49
 (OMIM) EEG shows epileptiform discharges 1 / 7739
50
 (OMIM) Brain imaging shows white-matter hypodensities and demyelination 1 / 7739
51
 (OMIM) Neurologic regression after age 2 years 1 / 7739
52
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
53
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
54
 (OMIM) Hypertelorism, mild 11 / 7739
55
 (OMIM) Stereotypical movements 2 / 7739
56
 (OMIM) Decreased or absent peroxisome acyl-CoA oxidase activity and protein 1 / 7739
57
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
58
 (OMIM) Liver biopsy shows normal numbers of enlarged peroxisomes 1 / 7739
59
 (OMIM) Increased plasma levels of very long-chain fatty acids (VLCFA) 2 / 7739
60
 (HPO:0002415) Leukodystrophy 30 / 7739
61
 (HPO:0003593) Infantile onset 249 / 7739
62
 (OMIM) Normal serum plasmalogen 2 / 7739
63
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
64
 (OMIM) Hepatomegaly, mild 8 / 7739
65
 (HPO:0007305) CNS demyelination 21 / 7739
66
 (OMIM) Absence of flash-evoked visual responses (VER) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Peroxisomal acyl-CoA oxidase deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also D-bifunctional protein deficiency (261515), caused by mutation in the HSD17B4 gene (601860) on chromosome 5q2. The clinical manifestations of these 2 deficiencies are similar ...
Diagnosis OMIM - Prenatal Diagnosis

Wanders et al. (1990) reported prenatal diagnosis of acyl-CoA oxidase deficiency by analysis of amniotic fluid taken at 20 weeks' gestation. Plasmalogen synthesis was normal, but beta-oxidation activity was decreased. There was an ...
Clinical Description OMIM Poll-The et al. (1988) reported a brother and sister, born of first-cousin parents, with neonatal hypotonia, seizures, apneic spells, delayed psychomotor development, and neurologic regression after age 2 years. Brain imaging showed progressive white-matter demyelination without cortical malformations. ...
Molecular genetics OMIM In 2 sibs with acyl-CoA oxidase deficiency reported by Poll-The et al. (1988), Fournier et al. (1994) identified a large deletion in the ACOX1 gene (609751.0001).

In 2 Japanese sibs with acyl-CoA oxidase deficiency reported by ...