Neurological conditions associated with aminoacylase 1 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: ACY1D
N-acyl-L-amino acid amidohydrolase deficiency
Number of Symptoms 23
OrphanetNr: 137754
OMIM Id: 609924
ICD-10: E72.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Aminoacylase deficiency
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism 644 / 7739
2
 (HPO:0000431) Wide nasal bridge 290 / 7739
3
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
4
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
5
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
6
 (HPO:0001250) Seizures 1245 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0000752) Hyperactivity 140 / 7739
9
 (HPO:0006846) Acute encephalopathy 3 / 7739
10
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
11
 (HPO:0001252) Muscular hypotonia 990 / 7739
12
 (HPO:0001324) Muscle weakness 859 / 7739
13
 (HPO:0010547) Muscle flaccidity 466 / 7739
14
 (OMIM) Increased urinary N-acetylated amino acids 1 / 7739
15
 (HPO:0001272) Cerebellar atrophy 197 / 7739
16
 (HPO:0002059) Cerebral atrophy 171 / 7739
17
 (OMIM) Decreased aminoacylase-1 activity 1 / 7739
18
 (HPO:0003812) Phenotypic variability 129 / 7739
19
 (HPO:0002120) Cerebral cortical atrophy 187 / 7739
20
 (HPO:0012448) Delayed myelination 51 / 7739
21
 (OMIM) Psychomotor retardation, mild to moderate 2 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
 (HPO:0002188) Delayed CNS myelination 16 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Van Coster et al. (2005) reported an infant with aminoacylase-1 deficiency. He presented neonatally with an acute encephalopathy with onset on the third day of life and duration of about 2 weeks. Clinical features included seizures, apnea, vomiting, ...
Molecular genetics OMIM In an infant with ACY1 deficiency, Van Coster et al. (2005) identified a homozygous mutation in the ACY1 gene (R353C; 104620.0002) resulting in loss of enzyme activity.

In 4 children with ACY1 deficiency, Sass et al. ...