TY - JOUR
T1 - Serum adenosine deaminase in normals and in a patient with adenosine deaminase deficient-severe combined immunodeficiency
AU - Ratech, Howard
AU - Hirschhorn, Rochelle
N1 - Funding Information:
This work was supportedb y NIH AI 10343a nd National Found.ationN o. 6-4. Howard Ratechw as supportedb y National Cancer InstituteT raining Grant No. 5 T33 CA 09161.
PY - 1981/9/24
Y1 - 1981/9/24
N2 - We have found 50% of normal adenosine deaminase (ADA) activity in the serum from a child with severe combined immunodeficiency (SCID) and genetic complete absence of ADA activity in other tissues (including erythrocytes, mononuclear and cultured cells). We, therefore, investigated properties of normal serum ADA and found that normal serum ADA activity is composed of two ADA isozymes with differing properties. Approximately 25-50% of normal serum ADA activity has properties similar to those of the major ADA isozymes (Ada1 and ADA1+CP) which are lacking in children with ADA deficient SCID. The remainder of serum ADA reflects activity of an isozyme with a molecular mass of approximately 100000 dalton. This isozyme has markedly different kinetic properties from those of the major ADA isozymes involved in genetic ADA deficiency. These include a markedly higher Km for adenosine (2800 μmol/1), a markedly lower ability to deaminate deoxyadenosine than adenosine and a relative insensitivity to inhibition by erythro-9(2-hydroxy-3-nonyl) adenine (EHNA), an inhibitor of the common ADA isozyme(s) (ADA1 and ADA1 + CP). The properties of this serum ADA isozyme are similar to those of the minor (~2%) ADA isozyme (ADA2), present in similar amounts in tissues of ADA deficient patients and normals. These findings suggest that the 50% of normal ADA activity observed in serum of an ADA deficient child reflects activity of the 100000-dalton isozyme.
AB - We have found 50% of normal adenosine deaminase (ADA) activity in the serum from a child with severe combined immunodeficiency (SCID) and genetic complete absence of ADA activity in other tissues (including erythrocytes, mononuclear and cultured cells). We, therefore, investigated properties of normal serum ADA and found that normal serum ADA activity is composed of two ADA isozymes with differing properties. Approximately 25-50% of normal serum ADA activity has properties similar to those of the major ADA isozymes (Ada1 and ADA1+CP) which are lacking in children with ADA deficient SCID. The remainder of serum ADA reflects activity of an isozyme with a molecular mass of approximately 100000 dalton. This isozyme has markedly different kinetic properties from those of the major ADA isozymes involved in genetic ADA deficiency. These include a markedly higher Km for adenosine (2800 μmol/1), a markedly lower ability to deaminate deoxyadenosine than adenosine and a relative insensitivity to inhibition by erythro-9(2-hydroxy-3-nonyl) adenine (EHNA), an inhibitor of the common ADA isozyme(s) (ADA1 and ADA1 + CP). The properties of this serum ADA isozyme are similar to those of the minor (~2%) ADA isozyme (ADA2), present in similar amounts in tissues of ADA deficient patients and normals. These findings suggest that the 50% of normal ADA activity observed in serum of an ADA deficient child reflects activity of the 100000-dalton isozyme.
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U2 - 10.1016/0009-8981(81)90247-3
DO - 10.1016/0009-8981(81)90247-3
M3 - Article
C2 - 6975191
AN - SCOPUS:0019466071
SN - 0009-8981
VL - 115
SP - 341
EP - 347
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
IS - 3
ER -