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MeSH Review:

Hyperthyroxinemia, Familial Dysalbuminemic

Petersen, C.E. et al., Stockigt, J.R. et al., Zucchelli, G.C. et al., Faber, J. et al., Sachmechi, I. et al., et al.

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High impact information on Hyperthyroxinemia, Familial Dysalbuminemic

Mutation of residue R218 within subdomain IIA greatly enhances the affinity for thyroxine and causes the elevated serum thyroxine levels associated with familial dysalbuminemic hyperthyroxinemia (FDH) [1].
The familial dysalbuminemic hyperthyroxinemia (FDH) phenotype results from a natural human serum albumin (HSA) mutant with histidine instead of arginine at amino acid position 218 [2].
Mutations in a specific human serum albumin thyroxine binding site define the structural basis of familial dysalbuminemic hyperthyroxinemia [2].
Sex hormone-binding protein in hyperthyroxinemic patients: a discriminator for thyroid status in thyroid hormone resistance and familial dysalbuminemic hyperthyroxinemia [3].
The control materials were normal serum pools, pooled sera supplemented with thyroid hormones, a pregnancy serum pool, serum pooled from patients with familial dysalbuminemic hyperthyroxinemia (FDH), and a normal serum pool progressively diluted [4].

Chemical compound and disease context of Hyperthyroxinemia, Familial Dysalbuminemic

However, sera from the patient, her mother and subsequently her newborn daughter demonstrated the increased albumin binding of T4 but not T3 that is characteristic of familial dysalbuminemic hyperthyroxinemia (FDH) [5].
Dopamine infusion in somatic ill patients (n = 11) resulted in reduced free T4 in both assays but only significantly for dialysis, and subjects with familial dysalbuminemic hyperthyroxinemia (n = 8) had unaltered free T4 levels in both assays [6].

Biological context of Hyperthyroxinemia, Familial Dysalbuminemic

Inhibition of serum protein binding of thyroxine in a hypothyroid patient with familial dysalbuminemic hyperthyroxinemia [7].

Gene context of Hyperthyroxinemia, Familial Dysalbuminemic

We evaluated sera showing three different albumin anomalies: total hereditary analbuminemia, partially corrected analbuminemia, and familial dysalbuminemic hyperthyroxinemia, where abnormal albumin-binding of analog tracer is associated with high apparent free T4 values by these methods [8].

Analytical, diagnostic and therapeutic context of Hyperthyroxinemia, Familial Dysalbuminemic

We investigated four probands, and the kindred of three, with familial dysalbuminemic hyperthyroxinemia, using the one- and two-step tests for free thyroxin and other thyroid-function tests [9].

References

Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia. Petitpas, I., Petersen, C.E., Ha, C.E., Bhattacharya, A.A., Zunszain, P.A., Ghuman, J., Bhagavan, N.V., Curry, S. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
Mutations in a specific human serum albumin thyroxine binding site define the structural basis of familial dysalbuminemic hyperthyroxinemia. Petersen, C.E., Ha, C.E., Jameson, D.M., Bhagavan, N.V. J. Biol. Chem. (1996) [Pubmed]
Sex hormone-binding protein in hyperthyroxinemic patients: a discriminator for thyroid status in thyroid hormone resistance and familial dysalbuminemic hyperthyroxinemia. de Nayer, P., Lambot, M.P., Desmons, M.C., Rennotte, B., Malvaux, P., Beckers, C. J. Clin. Endocrinol. Metab. (1986) [Pubmed]
Systematic differences between commercial immunoassays for free thyroxine and free triiodothyronine in an external quality assessment program. Zucchelli, G.C., Pilo, A., Chiesa, M.R., Masini, S. Clin. Chem. (1994) [Pubmed]
Familial dysalbuminemic hyperthyroxinemia in pregnancy. Sachmechi, I., Schussler, G.C. Eur. J. Endocrinol. (1995) [Pubmed]
Free thyroxine measured in undiluted serum by dialysis and ultrafiltration: effects of non-thyroidal illness, and an acute load of salicylate or heparin. Faber, J., Waetjen, I., Siersbaek-Nielsen, K. Clin. Chim. Acta (1993) [Pubmed]
Inhibition of serum protein binding of thyroxine in a hypothyroid patient with familial dysalbuminemic hyperthyroxinemia. Premachandra, B.N., Wortsman, J., Williams, I.K. Clin. Biochem. (1996) [Pubmed]
"Unbound analog" radioimmunoassays for free thyroxin measure the albumin-bound hormone fraction. Stockigt, J.R., Stevens, V., White, E.L., Barlow, J.W. Clin. Chem. (1983) [Pubmed]
Familial dysalbuminemic hyperthyroxinemia: a study of four probands and the kindred of three. Scottolini, A.G., Bhagavan, N.V., Oshiro, T., Powers, L. Clin. Chem. (1984) [Pubmed]

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