Aminoacylase 1 Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Aminoacylase 1 Deficiency

MalaCards integrated aliases for Aminoacylase 1 Deficiency:

Name: Aminoacylase 1 Deficiency 53 49 24 36 28 13 69
Acy1d 53 49 24 55 71
Deficiency of the Aminoacylase-1 Enzyme 49 24
Neurological Conditions Associated with Aminoacylase 1 Deficiency 55
Encephalopathy Associated with Aminoacylase 1 Deficiency 71
N-Acyl-L-Amino Acid Amidohydrolase Deficiency 55
Aminoacylase-1 Deficiency 71
Acy1 Deficiency 49
Aminoacylase-1 13


Orphanet epidemiological data:

neurological conditions associated with aminoacylase 1 deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;


autosomal recessive

variable phenotype
some patients are asymptomatic and detected only by newborn screening
seizures may occur with illness
patients may show normal development


aminoacylase 1 deficiency:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


External Ids:

OMIM 53 609924
Orphanet 55 ORPHA137754
UMLS via Orphanet 70 C1835922
ICD10 via Orphanet 33 E72.8
MedGen 39 C1835922
MeSH 41 D000592
KEGG 36 H01146
UMLS 69 C1835922

Summaries for Aminoacylase 1 Deficiency

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 137754Disease definitionAminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.EpidemiologyPrevalence is unknown but less than 20 cases have been reported in the literature so far.Clinical descriptionMost individuals with ACY1D identified so far are children who underwent selective screening tests for inborn errors of metabolism prompted mainly by delayed psychomotor development or by the occurrence of seizures. However, there is a considerable phenotypic variability between ACY1D individuals.EtiologyACY1D is caused by biallelic mutations in the ACY1 gene (3p21.2). ACY1 catalyzes the formation of free amino acids from N-acetylated precursors. The enzyme is strongly expressed in the human brain and is a potential modifier affecting the severity or manifestation of different neurologic diseases.Diagnostic methodsDiagnosis is made by gas chromatography-mass spectrometry (GC-MS) analysis of urinary organic acids revealing increased levels of N-acetylated amino acids, including methionine, glutamine, alanine, leucine, glycine, valine, and isoleucine derivatives, or by NMR spectroscopy of urine. The diagnosis can be confirmed by identification of mutations in the ACY1 gene and by detection of reduced ACY1 enzyme activity in Epstein-Barr virus (EBV)-transformed lymphoblasts or in fibroblasts.Genetic counselingACY1D is transmitted as an autosomal recessivetrait.Management and treatmentManagement is symptomatic only.PrognosisDue to the small number of individuals known to have ACY1D and due to the young age of the reported patients, the clinical course cannot be fully predicted and the prognosis is unknown. Characterization of additional patients and long-term follow-up are indicated.Visit the Orphanet disease page for more resources. Last updated: 8/8/2008

MalaCards based summary : Aminoacylase 1 Deficiency, also known as acy1d, is related to small cell cancer of the lung and lung cancer, and has symptoms including seizures, muscle weakness and hypertelorism. An important gene associated with Aminoacylase 1 Deficiency is ACY1 (Aminoacylase 1), and among its related pathways/superpathways is Arginine biosynthesis. Affiliated tissues include brain and testes.

Genetics Home Reference : 24 Aminoacylase 1 deficiency is an inherited disorder that can cause neurological problems; the pattern and severity of signs and symptoms vary widely among affected individuals. Individuals with this condition typically have delayed development of mental and motor skills (psychomotor delay). They can have movement problems, reduced muscle tone (hypotonia), mild intellectual disability, and seizures. However, some people with aminoacylase 1 deficiency have no health problems related to the condition. A key feature common to all people with aminoacylase 1 deficiency is high levels of modified protein building blocks (amino acids), called N-acetylated amino acids, in the urine.

OMIM : 53 Aminoacylase-1 deficiency (ACY1D) is a rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of specific N-actyl amino acids. Most patients show neurologic abnormalities such as intellectual disability, seizures, hypotonia, and motor delay (summary by Ferri et al., 2014). (609924)

UniProtKB/Swiss-Prot : 71 Aminoacylase-1 deficiency: An enzymatic deficiency resulting in encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids.

Wikipedia : 72 Aminoacylase 1 deficiency is a rare inborn error of metabolism. To date only 21 cases have been... more...

Related Diseases for Aminoacylase 1 Deficiency

Diseases related to Aminoacylase 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 small cell cancer of the lung 10.0
2 lung cancer 10.0
3 dystonia 10.0
4 hepatitis 9.9
5 hepatitis b 9.9
6 liver cirrhosis 9.9
7 herpes simplex 9.9

Graphical network of the top 20 diseases related to Aminoacylase 1 Deficiency:

Diseases related to Aminoacylase 1 Deficiency

Symptoms & Phenotypes for Aminoacylase 1 Deficiency

Symptoms via clinical synopsis from OMIM:

Neurologic Central Nervous System:
acute encephalopathy
psychomotor retardation, mild to moderate
cerebral atrophy (reported in 1 patient)
cerebellar atrophy (reported in 1 patient)
Head And Neck Ears:
sensorineural hearing loss (reported in 1 patient)

Head And Neck Nose:
broad nasal root (reported in 1 patient)

Laboratory Abnormalities:
decreased aminoacylase-1 activity
increased urinary n-acetylated amino acids

Muscle Soft Tissue:
muscle weakness

Head And Neck Eyes:
hypertelorism (reported in 1 patient)

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity (reported in 1 patient)

Clinical features from OMIM:


Human phenotypes related to Aminoacylase 1 Deficiency:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 muscle weakness 31 HP:0001324
3 hypertelorism 31 HP:0000316
4 global developmental delay 31 HP:0001263
5 wide nasal bridge 31 HP:0000431
6 sensorineural hearing impairment 31 HP:0000407
7 cerebellar atrophy 31 HP:0001272
8 hyperactivity 31 HP:0000752
9 cerebral atrophy 31 HP:0002059
10 generalized hypotonia 31 HP:0001290
11 delayed cns myelination 31 HP:0002188
12 acute encephalopathy 31 HP:0006846

UMLS symptoms related to Aminoacylase 1 Deficiency:

muscle weakness, seizures

Drugs & Therapeutics for Aminoacylase 1 Deficiency

Search Clinical Trials , NIH Clinical Center for Aminoacylase 1 Deficiency

Genetic Tests for Aminoacylase 1 Deficiency

Genetic tests related to Aminoacylase 1 Deficiency:

# Genetic test Affiliating Genes
1 Aminoacylase 1 Deficiency 28 ACY1

Anatomical Context for Aminoacylase 1 Deficiency

MalaCards organs/tissues related to Aminoacylase 1 Deficiency:

Brain, Testes

Publications for Aminoacylase 1 Deficiency

Articles related to Aminoacylase 1 Deficiency:

# Title Authors Year
The molecular basis of aminoacylase 1 deficiency. ( 21414403 )
Aminoacylase 1 deficiency associated with autistic behavior. ( 20480396 )
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism. ( 17516490 )
Neurological findings in aminoacylase 1 deficiency. ( 17562838 )

Variations for Aminoacylase 1 Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Aminoacylase 1 Deficiency:

# Symbol AA change Variation ID SNP ID
1 ACY1 p.Arg386Cys VAR_020452 rs2229152
2 ACY1 p.Glu233Asp VAR_026104 rs121912699
3 ACY1 p.Arg353Cys VAR_026105 rs121912698
4 ACY1 p.Arg197Trp VAR_043113 rs121912700
5 ACY1 p.Arg393His VAR_043114 rs121912701
6 ACY1 p.Arg378Gln VAR_065562 rs150480963
7 ACY1 p.Arg378Trp VAR_065563 rs148346337

ClinVar genetic disease variations for Aminoacylase 1 Deficiency:

# Gene Variation Type Significance SNP ID Assembly Location
1 ACY1 NM_000666.2(ACY1): c.1104_1105dupAC (p.Pro369Hisfs) duplication Pathogenic rs387906579 GRCh37 Chromosome 3, 52022968: 52022969
2 ACY1 NM_000666.2(ACY1): c.699A> C (p.Glu233Asp) single nucleotide variant Pathogenic rs121912699 GRCh37 Chromosome 3, 52021204: 52021204
3 ACY1 NM_000666.2(ACY1): c.360-1G> A single nucleotide variant Pathogenic rs672601330 GRCh37 Chromosome 3, 52020270: 52020270
4 ACY1 NM_000666.2(ACY1): c.589C> T (p.Arg197Trp) single nucleotide variant Pathogenic rs121912700 GRCh37 Chromosome 3, 52021009: 52021009
5 ACY1 NM_000666.2(ACY1): c.1001_1001+5delTGTGAG deletion Pathogenic rs672601350 GRCh37 Chromosome 3, 52022619: 52022624

Expression for Aminoacylase 1 Deficiency

Search GEO for disease gene expression data for Aminoacylase 1 Deficiency.

Pathways for Aminoacylase 1 Deficiency

Pathways related to Aminoacylase 1 Deficiency according to KEGG:

# Name Kegg Source Accession
1 Arginine biosynthesis hsa00220

GO Terms for Aminoacylase 1 Deficiency

Sources for Aminoacylase 1 Deficiency

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
51 Novoseek
54 OMIM via Orphanet
58 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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