Carnosinemia

MedGen UID:: 501203
•Concept ID:: C3495555
•: Disease or Syndrome

Synonym:	Carnosinase deficiency
SNOMED CT:	Carnosinemia (410052008)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0008921
OMIM®:	212200
Orphanet:	ORPHA1361

Definition

A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms. [from ORDO]

Clinical features

From HPO

Carnosinuria

MedGen UID:: 758781
•Concept ID:: C3495558
•: Finding

An increased concentration of carnosine in the urine.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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Generalized myoclonic seizure

MedGen UID:: 892704
•Concept ID:: C4021759
•: Disease or Syndrome

A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.

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Abnormality of the genitourinary system
- Carnosinuria
Abnormality of the nervous system
- Generalized myoclonic seizure
- Intellectual disability

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCarnosinemia

Biological anomaly without phenotypic characterization
- Carnosinemia

Recent clinical studies

Etiology

Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency.

Peters V, Zschocke J, Schmitt CP
J Inherit Metab Dis 2018 Jan;41(1):39-47. Epub 2017 Oct 13 doi: 10.1007/s10545-017-0099-2. PMID: 29027595

Low plasma carnosinase activity promotes carnosinemia after carnosine ingestion in humans.

Everaert I, Taes Y, De Heer E, Baelde H, Zutinic A, Yard B, Sauerhöfer S, Vanhee L, Delanghe J, Aldini G, Derave W
Am J Physiol Renal Physiol 2012 Jun 15;302(12):F1537-44. Epub 2012 Apr 11 doi: 10.1152/ajprenal.00084.2012. PMID: 22496410

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Diagnosis

Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency.

Peters V, Zschocke J, Schmitt CP
J Inherit Metab Dis 2018 Jan;41(1):39-47. Epub 2017 Oct 13 doi: 10.1007/s10545-017-0099-2. PMID: 29027595

See all (1)

Therapy

Does low serum carnosinase activity favor high-intensity exercise capacity?

Baguet A, Everaert I, Yard B, Peters V, Zschocke J, Zutinic A, De Heer E, Podgórski T, Domaszewska K, Derave W
J Appl Physiol (1985) 2014 Mar 1;116(5):553-9. Epub 2014 Jan 9 doi: 10.1152/japplphysiol.01218.2013. PMID: 24408989

Low plasma carnosinase activity promotes carnosinemia after carnosine ingestion in humans.

Carnosinemia. A new metabolic disorder associated with neurologic disease and mental defect.

Perry TL, Hansen S, Tischler B, Bunting R, Berry K
N Engl J Med 1967 Dec 7;277(23):1219-27. doi: 10.1056/NEJM196712072772302. PMID: 6058610

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