Hiperglicinemia no cetósica: mutación novedosa en el gen aminometiltransferasa. A propósito de un caso / Nonketotic hyperglycinemia: novel mutation in the aminomethyl transferase gene. Case report
Arch. argent. pediatr
; 114(3): e142-e146, jun. 2016. ilus, tab
Article
in English, Spanish
| LILACS, BINACIS
| ID: biblio-838213
Responsible library:
AR94.1
RESUMEN
La hiperglicinemia no cetósica es un raro trastorno metabólico autosómico recesivo hereditario causado por una deficiencia en el sistema enzimático de división de la glicina mitocondrial. Se desconoce la incidencia general de la hiperglicinemia no cetósica, aunque es mayor en ciertas poblaciones, como las del norte de Finlandia (1/12 000) y de la Columbia Británica (1/63 000). Se sabe que son tres los genes que causan hiper-glicinemia no cetósica GLDC, AMT y GCSH. Las mutaciones en el gen AMT son responsables del 20% de los casos de hiperglicinemia no cetósica. En este artículo describimos una mutación novedosa del codón de terminación (c.565C>T, p.Q189*) del gen AMT en un niño de cuatro meses de vida con hiperglicinemia no cetósica.
ABSTRACT
Nonketotic hyperglycinemia is a rare autosomal recessively inherited metabolic disorder, caused by a deficiency in the mitochondrial glycine cleavage system. The overall incidence of nonketotic hyperglycinemia is unknown, but is higher in certain populations such as north Finland (1/12,000) and British Colombia (1/63,000). Three genes (GLDC, AMT and GCSH) are known to cause nonketotic hyperglycinemia. Mutations in the AMT gene are responsible for 20% of nonketotic hyperglycinemia cases. We describe a novel stop codon mutation (c.565C>T, p.Q189*) in AMT gene in a four-month male infant with nonketotic hyperglycinemia.
Full text:
Available
Collection:
International databases
Database:
BINACIS
/
LILACS
Main subject:
Hyperglycinemia, Nonketotic
/
Aminomethyltransferase
/
Mutation
Limits:
Humans
/
Infant
/
Male
Language:
English
/
Spanish
Journal:
Arch. argent. pediatr
Journal subject:
Pediatrics
Year:
2016
Document type:
Article
Affiliation country:
Turkey
Institution/Affiliation country:
Hospital Universitario y de Investigación de Tepecik/TR
/
Izmir Kâtip Çelebi Üniversites/TR
/
Izmir Kâtip Çelebi Üniversitesi/TR