2-aminoadipic 2-oxoadipic aciduria

General Information (adopted from Orphanet):

Synonyms, Signs: AMOXAD
Alpha-aminoadipic aciduria
Number of Symptoms 10
OrphanetNr: 79154
OMIM Id: 204750
ICD-10: E72.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of lysine and hydroxylysine metabolism
 -Rare genetic disease

Comment:

The mutations in DHTKD1 are established as a cause of human 2-aminoadipic and 2-oxoadipic aciduria via impaired turnover of decarboxylation 2-oxoadipate to glutaryl-CoA. DHTKD1is involved in the L-lysine-degradation pathway. (PMID:23141293).

Symptom Information: Sort by abundance 

1
(HPO:0003355) Aminoaciduria 23141293 IBIS 65 / 7739
2
(HPO:0000252) Microcephaly 23141293 IBIS 832 / 7739
3
(HPO:0001256) Intellectual disability, mild 23141293 IBIS 141 / 7739
4
(HPO:0000750) Delayed speech and language development 23141293 IBIS 197 / 7739
5
(HPO:0001270) Motor delay 23141293 IBIS 322 / 7739
6
(HPO:0007018) Attention deficit hyperactivity disorder 23141293 IBIS 56 / 7739
7
(HPO:0001263) Global developmental delay 23141293 IBIS 853 / 7739
8
(HPO:0010908) Abnormality of lysine metabolism 23141293 IBIS 1 / 7739
9
(HPO:0001252) Muscular hypotonia 23141293 IBIS 990 / 7739
10
(OMIM) Alpha-aminoadipicaciduria 23141293 IBIS 1 / 7739

Associated genes:

DHTKD1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In the course of routine screening, Fischer et al. (1974) observed alpha-aminoadipic aciduria in 2 brothers, aged 9 and 10 years. They attributed it to a defect in lysine metabolism. One had slight mental retardation (IQ 86), but ...
Molecular genetics OMIM Danhauser et al. (2012) performed whole-exome sequencing on a patient with 2-aminoadipic 2-oxoadipic aciduria and found her to be compound heterozygous for 2 mutations in the DHTKD1 (614984) gene. The first mutation was an A-to-G transition altering the ...