MCID: CRN042
MIFTS: 26

Carnosinemia

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Carnosinemia

MalaCards integrated aliases for Carnosinemia:

Name: Carnosinemia 57 73 20 13 70
Carnosinase Deficiency 57 73 20 58
Homocarnosinase Deficiency 70

Characteristics:

Orphanet epidemiological data:

58
carnosinase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Infancy; Age of death: early childhood,late childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
carnosinemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 212200
ICD10 via Orphanet 33 E70.8
UMLS via Orphanet 71 C0268632 C3495554 C3495555
Orphanet 58 ORPHA1361
MedGen 41 C3495555
UMLS 70 C3495554 C3495555

Summaries for Carnosinemia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1361 Definition Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency. Epidemiology About 30 individuals have been reported worldwide. Etiology The gene associated with this disease has not been identified. The majority of the patients showed variable degrees of intellectual deficit. Some patients had seizures and one had congenital myopathy. A few patients had no symptoms at all. Diagnostic methods Diagnosis is based on amino acid analysis of serum and/or urine after exclusion of meat from the diet, and enzymatic testing. Differential diagnosis The differential diagnosis includes gamma-amino butyric acid (GABA) transaminase deficiency. Genetic counseling Autosomal recessive inheritance has been suggested. Management and treatment No efficient treatment is available, and it remains uncertain whether treatment is necessary.

MalaCards based summary : Carnosinemia, also known as carnosinase deficiency, is related to homocarnosinosis and 3-methylglutaconic aciduria, type iii. An important gene associated with Carnosinemia is CNSN (Carnosinemia (Carnosinase)). Affiliated tissues include skeletal muscle, kidney and brain, and related phenotypes are intellectual disability and eeg abnormality

Wikipedia : 73 Carnosinemia, is a rare autosomal recessive metabolic disorder caused by a deficiency of carnosinase, a... more...

More information from OMIM: 212200

Related Diseases for Carnosinemia

Graphical network of the top 20 diseases related to Carnosinemia:



Diseases related to Carnosinemia

Symptoms & Phenotypes for Carnosinemia

Human phenotypes related to Carnosinemia:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
3 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
4 carnosinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003167
5 generalized myoclonic seizure 31 hallmark (90%) HP:0002123
6 generalized myoclonic seizures 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Lab:
carnosinuria
carosinase deficiency
carnosinemia

Neuro:
myoclonic seizures
mental retardation

Clinical features from OMIM®:

212200 (Updated 20-May-2021)

Drugs & Therapeutics for Carnosinemia

Search Clinical Trials , NIH Clinical Center for Carnosinemia

Genetic Tests for Carnosinemia

Anatomical Context for Carnosinemia

MalaCards organs/tissues related to Carnosinemia:

40
Skeletal Muscle, Kidney, Brain

Publications for Carnosinemia

Articles related to Carnosinemia:

(show all 31)
# Title Authors PMID Year
1
A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency. 57 61
9029640 1997
2
Serum carnosinase deficiency concomitant with mental retardation. 61 57
4718759 1973
3
Serum-carnosinase deficiency in carnosinaemia. 57 61
4172777 1968
4
Carnosinemia. A new metabolic disorder associated with neurologic disease and mental defect. 61 57
6058610 1967
5
Human serum carnosinase: characterization, distinction from cellular carnosinase, and activation by cadmium. 57
7116644 1982
6
Histopathology of the nervous system in carnosinase enzyme deficiency with mental retardation. 57
4673339 1972
7
A patient with a deficiency of serum-carnosinase activity. 57
5378348 1969
8
Carnosinaemia. 57
4172797 1968
9
Pivotal role of carnosine in the modulation of brain cells activity: Multimodal mechanism of action and therapeutic potential in neurodegenerative disorders. 61
30593839 2019
10
Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency. 61
29027595 2018
11
Does low serum carnosinase activity favor high-intensity exercise capacity? 61
24408989 2014
12
Impairment of electron transfer chain induced by acute carnosine administration in skeletal muscle of young rats. 61
24877122 2014
13
Low plasma carnosinase activity promotes carnosinemia after carnosine ingestion in humans. 61
22496410 2012
14
A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometry. 61
16309980 2006
15
[Carnosinemia]. 61
11031981 2000
16
[Serum carnosinase deficiency and homocarnosinosis]. 61
9590040 1998
17
Inherited disorders of GABA metabolism. 61
8412016 1993
18
Inborn errors of carnosine and homocarnosine metabolism. 61
2358806 1990
19
A fluorometric micromethod for estimation of carnosinase in dried blood samples. 61
3621601 1987
20
Homocarnosinosis: influence of dietary restriction of histidine. 61
3736769 1986
21
Reduced serum carnosinase activity in hypothyroidism. 61
3767265 1986
22
Serum carnosinase deficiency: a non-disabling phenotype? 61
4093964 1985
23
Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine. 61
6616870 1983
24
[Carnosinemia (author's transl)]. 61
7261001 1981
25
Neurological disease in a child with carnosinase deficiency. 61
7266778 1981
26
[Carnosinemia. First French case]. 61
7465301 1980
27
Carnosinase deficiency: a new variant with high residual activity. 61
7375183 1980
28
Carnosinase activity of human gastrointestinal mucosa. 61
1237444 1975
29
Plasma carnosinase deficiency in patients with urea cycle defects. 61
1132153 1975
30
[Carnosinemia]. 61
4907174 1968
31
Carnosinemia, seizures and psychomotor retardation. 61
6058614 1967

Variations for Carnosinemia

Expression for Carnosinemia

Search GEO for disease gene expression data for Carnosinemia.

Pathways for Carnosinemia

GO Terms for Carnosinemia

Sources for Carnosinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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