Carnosinemia
Definicija
Retka urođena metabolička greška karakteriše se niskom aktivnošću karnozinaze u serumu, upornom karnozinurijom i karnozinemijom. Klinički fenotip je izuzetno varijabilan; neki pacijenti su asimptomatski, dok drugi pokazuju ozbiljno zaostajanje u razvoju, intelektualnu ometenost, hipotoniju, napade i druge neurološke znakove i simptome.
Pretraga
Pun naziv
Carnosinemia
Kratki naziv
-
Sinonimi
Carnosinase deficiency
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
-