Carnosinemia

General Information (adopted from Orphanet):

Synonyms, Signs: carnosinase deficiency
Number of Symptoms 11
OrphanetNr: 1361
OMIM Id: 212200
ICD-10: E70.8
UMLs:
MeSH:
MedDRA:
Snomed: 410052008

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of peptide metabolism
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0003167) Carnosinuria 3 / 7739
2
(HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
3
(HPO:0002123) Generalized myoclonic seizures 62 / 7739
4
(HPO:0001249) Intellectual disability 1089 / 7739
5
(HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
6
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
7
(HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 45 / 7739
8
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Carnosinemia 1 / 7739
11
(OMIM) Carosinase deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Perry et al. (1967) described 2 unrelated children with a progressive neurologic disorder characterized by severe mental defect and myoclonic seizures. Both excreted carnosine (see 609064) in the urine, even when all source of the dipeptide was excluded ...