" /> Glycine encephalopathy 1 - CISMeF





Preferred Label : Glycine encephalopathy 1;

Symbol : GCE1;

CISMeF acronym : GCE; NKH; TNH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperglycinemia, nonketotic; NKH; GCE;

Included titles and symbols : Hyperglycinemia, transient neonatal; TNH;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glycine dehydrogenase gene (GLDC, 238300.0001); Caused by mutation in the glycine cleavage system H protein gene (GCSH, 238330.0001); Caused by mutation in the aminomethyltransferase gene (AMT, 238310.0001);

Laboratory abnormalities : Hyperglycinemia; Hyperglycinuria; Hepatic glycine cleavage defect; Elevated CSF/plasma glycine ratio; Elevated CSF glycine;

Prefixed ID : #605899;

Détails


Vous pouvez consulter :


Nous contacter.
29/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.