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Hyperproinsulinemia

MedGen UID:
137967
Concept ID:
C0342283
Disease or Syndrome
Synonyms: HYPERPROINSULINEMIA
SNOMED CT: Hyperproinsulinemia (237613005)
 
Gene: INS
Cytogenetic location: 11p15.5
OMIM®: 616214

Definition

Insulin (INS; 176730) is produced posttranslationally from its precursor molecule, proinsulin, by site-directed proteolysis in beta-cell granules. Conversion involves cleavage at pairs of basic residues that link both the insulin A and B chains to C-peptide. Human proinsulin conversion has a preferred sequential route, such that cleavage at the B-chain/C-peptide junction occurs first, producing des-31,32 split proinsulin as the major conversion intermediate. Under normal circumstances, proinsulin conversion is largely completed before secretion, and low plasma levels of intact proinsulin and conversion intermediates are found. Structural abnormalities in the proinsulin molecule can impair conversion, leading to the accumulation of proinsulin-like material in the circulation. Such defects show an autosomal dominant mode of inheritance and are the main cause of familial hyperproinsulinemia (summary by Warren-Perry et al., 1997). [from OMIM]

Clinical features

Hyperinsulinemia
MedGen UID:
43779
Concept ID:
C0020459
Disease or Syndrome
A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS.
Hyperglycemia
MedGen UID:
5689
Concept ID:
C0020456
Disease or Syndrome
Hyperglycemia means high blood sugar or glucose. Glucose comes from the foods you eat. Insulin is a hormone that moves glucose into your cells to give them energy. Hyperglycemia happens when your body doesn't make enough insulin or can't use it the right way. People with diabetes can get hyperglycemia from not eating the right foods or not taking medicines correctly. Other problems that can raise blood sugar include infections, certain medicines, hormone imbalances, or severe illnesses.
Hyperinsulinemia
MedGen UID:
43779
Concept ID:
C0020459
Disease or Syndrome
A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS.

Recent clinical studies

Etiology

Retnakaran R, Hanley AJ, Sermer M, Zinman B
Diabetes Care 2005 Nov;28(11):2710-5. PMID: 16249544
Risérus U, Arnlöv J, Brismar K, Zethelius B, Berglund L, Vessby B
Diabetes Care 2004 Aug;27(8):2041-6. PMID: 15277437
Vauhkonen IK, Niskanen LK, Mykkänen L, Haffner SM, Uusitupa MI, Laakso M
Eur J Endocrinol 2000 Aug;143(2):251-60. PMID: 10913945
Röder ME, Vissing H, Nauck MA
J Clin Endocrinol Metab 1996 Apr;81(4):1634-40. doi: 10.1210/jcem.81.4.8636380. PMID: 8636380
Seaquist ER, Kahn SE, Clark PM, Hales CN, Porte D Jr, Robertson RP
J Clin Invest 1996 Jan 15;97(2):455-60. doi: 10.1172/JCI118435. PMID: 8567967Free PMC Article

Diagnosis

Bolinder J, Fernlund P, Borg H, Arnqvist HJ, Björk E, Blohmé G, Eriksson JW, Nyström L, Ostman J, Sundkvist G
Scand J Clin Lab Invest 2005;65(7):585-94. doi: 10.1080/00365510500261869. PMID: 16271990
Retnakaran R, Hanley AJ, Sermer M, Zinman B
Diabetes Care 2005 Nov;28(11):2710-5. PMID: 16249544
Risérus U, Arnlöv J, Brismar K, Zethelius B, Berglund L, Vessby B
Diabetes Care 2004 Aug;27(8):2041-6. PMID: 15277437
Cohen RM, Given BD, Licinio-Paixao J, Provow SA, Rue PA, Frank BH, Root MA, Polonsky KS, Tager HS, Rubenstein AH
Metabolism 1986 Dec;35(12):1137-46. PMID: 3023795
Gabbay KH, DeLuca K, Fisher JN Jr, Mako ME, Rubenstein AH
N Engl J Med 1976 Apr 22;294(17):911-5. doi: 10.1056/NEJM197604222941701. PMID: 815812

Therapy

Davalli AM, Perego L, Bertuzzi F, Finzi G, La Rosa S, Blau A, Placidi C, Nano R, Gregorini L, Perego C, Capella C, Folli F
Cell Transplant 2008;17(12):1323-36. PMID: 19364070
Larsson H, Ahrén B
J Clin Endocrinol Metab 1999 Jun;84(6):2068-74. doi: 10.1210/jcem.84.6.5717. PMID: 10372712
Rachman J, Levy JC, Barrow BA, Manley SE, Turner RC
Diabetes 1997 Oct;46(10):1557-62. PMID: 9313749
Inoue I, Takahashi K, Noji S, Awata T, Negishi K, Katayama S
Diabetes Res Clin Pract 1997 Jun;36(3):143-51. PMID: 9237780
Gabbay KH, DeLuca K, Fisher JN Jr, Mako ME, Rubenstein AH
N Engl J Med 1976 Apr 22;294(17):911-5. doi: 10.1056/NEJM197604222941701. PMID: 815812

Prognosis

Farhan S, Jarai R, Tentzeris I, Freynhofer MK, Brozovic I, Vogel B, Kautzky-Willer A, Wascher T, Wojta J, Huber K
Clin Chem 2011 Oct;57(10):1456-60. Epub 2011 Jul 22 doi: 10.1373/clinchem.2011.165126. [Epub ahead of print] PMID: 21784763
Johansson HE, Haenni A, Karlsson FA, Edén-Engström B, Ohrvall M, Sundbom M, Zethelius B
Obes Surg 2010 May;20(5):549-58. doi: 10.1007/s11695-010-0102-6. PMID: 20198453
Risérus U, Arnlöv J, Brismar K, Zethelius B, Berglund L, Vessby B
Diabetes Care 2004 Aug;27(8):2041-6. PMID: 15277437
Reis AF, Miranda WL, Chacra AR
Braz J Med Biol Res 1998 Dec;31(12):1545-51. PMID: 9951550
Chan SJ, Seino S, Gruppuso PA, Schwartz R, Steiner DF
Proc Natl Acad Sci U S A 1987 Apr;84(8):2194-7. PMID: 3470784Free PMC Article

Clinical prediction guides

Retnakaran R, Hanley AJ, Sermer M, Zinman B
Diabetes Care 2005 Nov;28(11):2710-5. PMID: 16249544
Risérus U, Arnlöv J, Brismar K, Zethelius B, Berglund L, Vessby B
Diabetes Care 2004 Aug;27(8):2041-6. PMID: 15277437
Barbetti F, Raben N, Kadowaki T, Cama A, Accili D, Gabbay KH, Merenich JA, Taylor SI, Roth J
J Clin Endocrinol Metab 1990 Jul;71(1):164-9. doi: 10.1210/jcem-71-1-164. PMID: 2196279
Chan SJ, Seino S, Gruppuso PA, Schwartz R, Steiner DF
Proc Natl Acad Sci U S A 1987 Apr;84(8):2194-7. PMID: 3470784Free PMC Article
Elbein SC, Gruppuso P, Schwartz R, Skolnick M, Permutt MA
Diabetes 1985 Aug;34(8):821-4. PMID: 2991050

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