Carnosinase deficiency

Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.



Input patient's signs and symptoms


Narrow down the case reports



Total: 4 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 9029640
 A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency.
Willi SM, Zhang Y, Hill JB, Phelan MC, Michaelis RC, Holden KR.
Pediatr Res. 1997;41(2):210-3.
Seizure
CNDP1
Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 18 Developmental Disabilities Dipeptidases Females Homo sapiens Logistic Models Tremor
1
(4.0%)		 7375183
 Carnosinase deficiency: a new variant with high residual activity.
Fleisher LD, Rassin DK, Wisniewski K, Salwen HR.
Pediatr Res. 1980;14(4 Pt 1):269-71.
Optic atrophy
Amino Acid Metabolism, Inborn Errors Anserine Child Dipeptidases Dipeptides Homo sapiens Intellectual Disability Male Seizures
1
(4.0%)		 7266778
 Neurological disease in a child with carnosinase deficiency.
Wisniewski K, Fleisher L, Rassin D, Lassmann H.
Neuropediatrics. 1981;12(2):143-51.
Polyneuropathy
Child Dipeptidases Electron Microscopy Homo sapiens Intellectual Disability Male Neuromuscular Diseases Skin
1
(4.0%)		 3736769
 Homocarnosinosis: influence of dietary restriction of histidine.
Lunde HA, Gjessing LR, Sjaastad O.
Neurochem Res. 1986;11(6):825-38.
Carnosinuria
Adult Amino Acids Diet Dipeptides Homo sapiens Inborn Errors of Metabolism Male
        

Phenotype(s) retrieved from Orphanet

    Total: 5

HPO ID Term Frequency
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0002123 Generalized myoclonic seizures Very frequent (99-80%)
HP:0002353 EEG abnormality Very frequent (99-80%)
HP:0002376 Developmental regression Very frequent (99-80%)
HP:0003167 Carnosinuria Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 6

HPO ID Term # of case reports
HP:0003167 Carnosinuria 2
HP:0000648 Optic atrophy 1
HP:0001250 Seizures 1
HP:0001271 Polyneuropathy 1
HP:0009830 Peripheral neuropathy 1
HP:0025356 Psychomotor retardation 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID