[Neo-natal hyperbilirubinemia and G-6-PD Ankara deficiency, a new enzymatic variant discovered in a Turkish family (author's transl)]. / Ictère néo-natal et déficit en G-6-PD Ankara, une nouvelle variante enzymatique découverte dans une famille turque
Nouv Rev Fr Hematol
; 15(4): 454-9, 1975.
Article
en Fr
| MEDLINE
| ID: mdl-132644
ABSTRACT
A G-6-PD deficiency has been found in a Turkish male premature with neo-natal hyperbilirubinemia. His parents have no hemolytic antecedents. The propositus has a severe enzym deficiency in erythrocytes, a very decreased activity in leukocytes and platelets. His mother was heterozygous for this variant and his father had no abnormality. The deficient enzym was a new variant G-6-PD Ankara. The main characteristics of this variant were the following 1 degree severe enzym deficiency in erythrocytes (8% of normal); 2 degrees fast starch gel electrophoretic mobility (110% of normal); 3 degrees enzym instability in vivo and in vitro; 4 degrees increased KiNADPH; 5 degrees decreased molecular specific activity (58% of normal). Only variant B(-) G-6-PD deficiency have hitherto been described in Turkey. In contrast, G-6-PD Ankara is a fast variant and is unlike any other known variants.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Deficiencia de Glucosafosfato Deshidrogenasa
/
Ictericia Neonatal
Tipo de estudio:
Etiology_studies
Límite:
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
País/Región como asunto:
Asia
/
Europa
Idioma:
Fr
Revista:
Nouv Rev Fr Hematol
Año:
1975
Tipo del documento:
Article