Literature DB >> 6986080

A case of leprechaunism with severe hyperinsulinemia.

A M Rosenberg, J C Haworth, G W Degroot, C L Trevenen, M M Rechler.   

Abstract

This report describes an infant with physical features typical of leprechaunism, including a characteristic facies, hirsutism, and decreased subcutaneous tissue and muscle mass. Intermittent hypoglycemia and severe hyperinsulinemia were documented. The patient's insulin was normal in molecular size and biological activity, but its binding to the patient's cultured fibroblasts was profoundly decreased. Insulin antibodies were not present. A literature review has been undertaken to clarify further the clinical, metabolic, and pathological characteristics of this condition.

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Year:  1980        PMID： 6986080     DOI： 10.1001/archpedi.1980.02130140044014

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


  12 in total

Review 1.  Insulin resistance due to mutations of the insulin receptor gene: an overview.

Authors:  D Accili; A Cama; F Barbetti; H Kadowaki; T Kadowaki; S I Taylor
Journal:  J Endocrinol Invest       Date:  1992-12       Impact factor: 4.256

Review 2.  The frontiers of cardiomyopathy.

Authors:  J F Goodwin
Journal:  Br Heart J       Date:  1982-07

3.  Qualitative abnormalities in insulin binding in a patient with extreme insulin resistance: decreased sensitivity to alterations in temperature and pH.

Authors:  S I Taylor; J Roth; R M Blizzard; M J Elders
Journal:  Proc Natl Acad Sci U S A       Date:  1981-11       Impact factor: 11.205

4.  The Patterson syndrome, leprechaunism, and pseudoleprechaunism.

Authors:  T J David; B W Webb; I R Gordon
Journal:  J Med Genet       Date:  1981-08       Impact factor: 6.318

5.  Insulin receptor function in fibroblasts from patients with leprechaunism. Differential alterations in binding, autophosphorylation, kinase activity, and receptor-mediated internalization.

Authors:  S S Reddy; V Lauris; C R Kahn
Journal:  J Clin Invest       Date:  1988-10       Impact factor: 14.808

6.  A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.

Authors:  L I al-Gazali; M Khalil; K Devadas
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

7.  Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.

Authors:  T Kadowaki; H Kadowaki; M M Rechler; M Serrano-Rios; J Roth; P Gorden; S I Taylor
Journal:  J Clin Invest       Date:  1990-07       Impact factor: 14.808

8.  Stimulation of glucose incorporation and amino acid transport by insulin and an insulin-like growth factor in fibroblasts with defective insulin receptors cultured from a patient with leprechaunism.

Authors:  A B Knight; M M Rechler; J A Romanus; E E Van Obberghen-Schilling; S P Nissley
Journal:  Proc Natl Acad Sci U S A       Date:  1981-04       Impact factor: 11.205

9.  Receptors for insulinlike growth factor I are defective in fibroblasts cultured from a patient with leprechaunism.

Authors:  E E Van Obberghen-Schilling; M M Rechler; J A Romanus; A B Knight; S P Nissley; R E Humbel
Journal:  J Clin Invest       Date:  1981-11       Impact factor: 14.808

10.  Leprechaunism: an inherited defect in a high-affinity insulin receptor.

Authors:  L J Elsas; F Endo; E Strumlauf; J Elders; J H Priest
Journal:  Am J Hum Genet       Date:  1985-01       Impact factor: 11.025
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