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Aminoacylase 1 deficiency(ACY1D)

MedGen UID:
324393
Concept ID:
C1835922
Disease or Syndrome
Synonyms: ACY1 deficiency; Deficiency of the aminoacylase-1 enzyme; Neurological conditions associated with aminoacylase 1 deficiency
SNOMED CT: Aminoacylase 1 deficiency (709282004); Deficiency of aminoacylase 1 (709282004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): ACY1 (3p21.2)
 
Monarch Initiative: MONDO:0012368
OMIM®: 609924
Orphanet: ORPHA137754

Definition

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). [from OMIM]

Additional description

From MedlinePlus Genetics
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.  https://medlineplus.gov/genetics/condition/aminoacylase-1-deficiency

Clinical features

From HPO
Bradycardia
MedGen UID:
140901
Concept ID:
C0428977
Finding
A slower than normal heart rate (in adults, slower than 60 beats per minute).
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Sensorineural hearing impairment
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Hyperactivity
MedGen UID:
98406
Concept ID:
C0424295
Finding
Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Acute encephalopathy
MedGen UID:
224930
Concept ID:
C1306587
Disease or Syndrome
A life-threatening disorder characterized by delirium, seizures, and neuromuscular changes.
Delayed CNS myelination
MedGen UID:
867393
Concept ID:
C4021758
Anatomical Abnormality
Delayed myelination in the central nervous system.
Cerebral cortical atrophy
MedGen UID:
1646740
Concept ID:
C4551583
Disease or Syndrome
Atrophy of the cortex of the cerebrum.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Breech presentation
MedGen UID:
654
Concept ID:
C0006157
Pathologic Function
A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAminoacylase 1 deficiency
Follow this link to review classifications for Aminoacylase 1 deficiency in Orphanet.

Recent clinical studies

Etiology

Göverti D, Yüksel RN, Kaya H, Büyüklüoğlu N, Yücel Ç, Göka E
Nord J Psychiatry 2022 Jul;76(5):380-385. Epub 2021 Oct 14 doi: 10.1080/08039488.2021.1981435. PMID: 35791057
Alessandrì MG, Milone R, Casalini C, Nesti C, Cioni G, Battini R
Brain Dev 2018 Aug;40(7):570-575. Epub 2018 Apr 10 doi: 10.1016/j.braindev.2018.03.009. PMID: 29653693

Diagnosis

Göverti D, Yüksel RN, Kaya H, Büyüklüoğlu N, Yücel Ç, Göka E
Nord J Psychiatry 2022 Jul;76(5):380-385. Epub 2021 Oct 14 doi: 10.1080/08039488.2021.1981435. PMID: 35791057
Alessandrì MG, Milone R, Casalini C, Nesti C, Cioni G, Battini R
Brain Dev 2018 Aug;40(7):570-575. Epub 2018 Apr 10 doi: 10.1016/j.braindev.2018.03.009. PMID: 29653693
Sass JO, Vaithilingam J, Gemperle-Britschgi C, Delnooz CC, Kluijtmans LA, van de Warrenburg BP, Wevers RA
Metab Brain Dis 2016 Jun;31(3):587-92. Epub 2015 Dec 19 doi: 10.1007/s11011-015-9778-6. PMID: 26686503
Tylki-Szymanska A, Gradowska W, Sommer A, Heer A, Walter M, Reinhard C, Omran H, Sass JO, Jurecka A
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S211-4. Epub 2010 May 18 doi: 10.1007/s10545-010-9089-3. PMID: 20480396

Prognosis

Göverti D, Yüksel RN, Kaya H, Büyüklüoğlu N, Yücel Ç, Göka E
Nord J Psychiatry 2022 Jul;76(5):380-385. Epub 2021 Oct 14 doi: 10.1080/08039488.2021.1981435. PMID: 35791057
Alessandrì MG, Milone R, Casalini C, Nesti C, Cioni G, Battini R
Brain Dev 2018 Aug;40(7):570-575. Epub 2018 Apr 10 doi: 10.1016/j.braindev.2018.03.009. PMID: 29653693
Tylki-Szymanska A, Gradowska W, Sommer A, Heer A, Walter M, Reinhard C, Omran H, Sass JO, Jurecka A
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S211-4. Epub 2010 May 18 doi: 10.1007/s10545-010-9089-3. PMID: 20480396

Clinical prediction guides

Göverti D, Yüksel RN, Kaya H, Büyüklüoğlu N, Yücel Ç, Göka E
Nord J Psychiatry 2022 Jul;76(5):380-385. Epub 2021 Oct 14 doi: 10.1080/08039488.2021.1981435. PMID: 35791057
Ferri L, Funghini S, Fioravanti A, Biondi EG, la Marca G, Guerrini R, Donati MA, Morrone A
Clin Genet 2014 Oct;86(4):367-72. Epub 2013 Nov 18 doi: 10.1111/cge.12297. PMID: 24117009
Tylki-Szymanska A, Gradowska W, Sommer A, Heer A, Walter M, Reinhard C, Omran H, Sass JO, Jurecka A
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S211-4. Epub 2010 May 18 doi: 10.1007/s10545-010-9089-3. PMID: 20480396
Engelke UF, Sass JO, Van Coster RN, Gerlo E, Olbrich H, Krywawych S, Calvin J, Hart C, Omran H, Wevers RA
NMR Biomed 2008 Feb;21(2):138-47. doi: 10.1002/nbm.1170. PMID: 17516490

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