Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: METHACRYLIC ACID TOXICITY
VALINE METABOLIC DEFECT
HIBCH DEFICIENCY
3-&#64
HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY
methacrylic aciduria
Number of Symptoms 22
OrphanetNr: 88639
OMIM Id: 250620
ICD-10: E71.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Classic organic aciduria
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003355) Aminoaciduria 65 / 7739
2
 (HPO:0001999) Abnormal facial shape 169 / 7739
3
 (HPO:0000286) Epicanthus 371 / 7739
4
 (HPO:0000639) Nystagmus 555 / 7739
5
 (HPO:0000486) Strabismus 576 / 7739
6
 (HPO:0001332) Dystonia 197 / 7739
7
 (HPO:0001250) Seizures 1245 / 7739
8
 (HPO:0001263) Global developmental delay 853 / 7739
9
 (HPO:0001310) Dysmetria 76 / 7739
10
 (HPO:0002376) Developmental regression 74 / 7739
11
 (HPO:0001336) Myoclonus 115 / 7739
12
 (HPO:0003468) Abnormality of the vertebrae 77 / 7739
13
 (HPO:0011968) Feeding difficulties 240 / 7739
14
 (HPO:0001636) Tetralogy of Fallot 104 / 7739
15
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
16
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
17
 (OMIM) Urinary excretion of cysteine and cysteamine conjugates of methacrylic acid 1 / 7739
18
 (OMIM) Accumulation of methacrylyl-CoA 1 / 7739
19
 (OMIM) Agenesis of the cingulate gyrus 2 / 7739
20
 (OMIM) Beta-hydroxyisobutyryl-CoA deacylase deficiency 1 / 7739
21
 (OMIM) Methacrylicaciduria 1 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Brown et al. (1982) found deficiency of beta-hydroxyisobutyryl-CoA deacylase, an enzyme unique to valine metabolism, in a male infant who was born to first-cousin parents and died at 3 months with multiple physical malformations (dysmorphic facies, multiple vertebral ...
Molecular genetics OMIM Using immunoblot analysis, Loupatty et al. (2007) demonstrated absence of the HIBCH protein in the patient reported by Brown et al. (1982) and an apparently low expression of the HIBCH protein in their own patient. In the patient ...