N-ACETYLASPARTATE DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: NAA DEFICIENCY
HYPOACETYLASPARTIA
NACED
Number of Symptoms 5
OrphanetNr:
OMIM Id: 614063
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0001250) Seizures 1245 / 7739
3
(HPO:0002078) Truncal ataxia 41 / 7739
4
(HPO:0001263) Global developmental delay 853 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The absence of brain N-acetylaspartate (NAA) was described in 1 patient with truncal ataxia, marked developmental delay, seizures, and secondary microcephaly. Martin et al. (2001) initially described a 3-year-old boy who was born at term as the second ...
Molecular genetics OMIM Wiame et al. (2010) identified a homozygous 19-bp deletion in the NAT8L gene (610647.0001) in the patient described by Martin et al. (2001) with N-acetylaspartate deficiency.