Carnosinemia

Definicija

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

Pretraga

Pun naziv

Carnosinemia

Kratki naziv

-

Sinonimi

Carnosinase deficiency_x000D_Homocarnosinosis

Orpha broj

1361

Kategorija

Podkategorija

Naziv na stranom jeziku

-

Prevalenca

Nepoznato

Nasleđivanje

Autosomal recessive

Period početka bolesti

-

ICD 10

E70.8

OMIM

212200

UMLS

C0268632  C3495554  C3495555

GARD

6001

MEDDRA

NULL
Tekstualni opis
-
Etiologija
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.
Prognoza
bolest_prognoza
Diferencijalna dijagnoza
The differential diagnosis includes gamma-amino butyric acid (GABA) transaminase deficiency.
Tretman
No efficient treatment is available, and it remains uncertain whether treatment is necessary.
Dijagnostičke metode
Diagnosis is based on amino acid analysis of serum and/or urine after exclusion of meat from the diet, and enzymatic testing.
Antenatalna dijagnoza
-
Epidemiologija
About 30 individuals have been reported worldwide.
Genetsko savetovanje
Autosomal recessive inheritance has been suggested.
Terapija
-
Klinička istraživanja
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