Premium
Maple syrup urine disease: α‐Ketoisocaproate decarboxylation activity in different types of cultured amniotic fluid cells
Author(s) -
Wendel U.,
Gamm G.,
Claussen U.
Publication year - 1981
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970010402
Subject(s) - maple syrup urine disease , amniotic fluid , decarboxylation , urine , leucine , cell , fetus , chemistry , biochemistry , endocrinology , biology , medicine , amino acid , pregnancy , genetics , catalysis
Three different cell types of primary amniotic fluid cultures (AF‐, F‐, and E‐cells according to Hoehn et al. , 1974) were analysed for α‐ketoisocaproate decarboxylation activity by microtechnique. This reaction using L‐[1‐ 14 C] leucine as initial substrate is applied for prenatal diagnosis of maple syrup urine disease. Activities of α‐ketoisocaproate decarboxylation did not differ significantly for the respective cell types and comparatively small numbers of cells from any primary amniotic fluid culture can be used for the biochemical assay irrespective of the prevailing cell type.