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Previous Volume 344:1588-1592 May 24, 2001 Number 21 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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Diabetes mellitus is a heterogeneous disorder that can occur at any age.¹ Neonatal diabetes mellitus, defined as insulin-requiring hyperglycemia within the first month of life, is a rare disorder that is usually associated with intrauterine growth retardation.² Like diabetes in general, neonatal diabetes is heterogeneous and can be either transient or permanent. Transient neonatal diabetes is associated with abnormalities of chromosome 6,^2,3 whereas mutations in insulin promoter factor 1 result in pancreatic agenesis and permanent neonatal diabetes.⁴ We describe two patients in whom complete deficiency of the glycolytic enzyme glucokinase, a key regulator of glucose metabolism in pancreatic beta cells . . . [Full Text of this Article]

Case Reports

Subject 1

Subject 2

Methods

Molecular Genetic Studies

Kinetic Analysis of Recombinant Wild-Type and Mutant Glucokinase

Mathematical Modeling

Results

Kinetic Analysis of Recombinant Glucokinase

Mathematical Modeling and Pathophysiologic Implications

Discussion

Source Information

From the Howard Hughes Medical Institute and the Departments of Biochemistry and Molecular Biology, Medicine, and Human Genetics, University of Chicago, Chicago (P.R.N., G.I.B.); the Department of Pediatrics (P.R.N., O.S.) and the Center for Medical Genetics and Molecular Medicine (L.B., A.M.), Haukeland University Hospital, University of Bergen, Bergen, Norway; the Department of Biochemistry and Biophysics and the Diabetes Research Center, University of Pennsylvania School of Medicine, Philadelphia (A.C.-M., F.M.M.); the San Raffaele Scientific Institute, Milan, Italy (O.M., F.B.); the Institute of Immunology, National Hospital, Oslo, Norway (D.E.U.); and the Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville (C.S., M.A.M.).

Address reprint requests to Dr. Njølstad at the Department of Pediatrics, Haukeland University Hospital, N-5021 Bergen, Norway, or at pal.njolstad@pedi.uib.no.

References

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