Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus

Article Abstract:

Mutations in the gene for glucokinase may be one of the causes of maturity-onset diabetes of the young, a type of adult-onset diabetes that occurs in young people. Glucokinase is an enzyme in the pancreas and liver that is involved in glucose metabolism. A study examined genetic mutations in glucokinase among individuals from 32 families with maturity-onset diabetes of the young and 21 families with adult-onset diabetes. DNA analysis revealed that over half the families with maturity-onset diabetes of the young had mutations in the glucokinase gene. Sixteen different mutations were found among individuals from 18 of these families No mutations in the gene for glucokinase were found among the individuals with late-onset diabetes. Patients with maturity-onset diabetes of the young whose families carried a gene defect usually began suffering from mild hyperglycemia in childhood, but those without these mutations were more likely to develop hyperglycemia after puberty.

Mutation (Biology), Mutation, Familial diseases

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Familial hyperinsulinism caused by an activating glucokinase mutation

Article Abstract:

Cases of abnormal glucose metabolism and insulin secretion within a particular family may be the result of a genetic mutation in the glucose-controlled insulin secretion regulator, glucokinase. Members of three generations in the family had abnormally low glucose levels during fasting, and the oldest member developed insulin-dependent diabetes in middle-age. Genetic analysis revealed a mutation in glucokinase present in three generations of the family that was directly responsible for their symptoms.

Gene mutations, Gene mutation, Glucose metabolism

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Neonatal diabetes mellitus due to complete glucokinase deficiency

Article Abstract:

Medical scientists describe two newborn babies who developed diabetes because they had a complete absence of the enzyme glucokinase. This enzyme regulates the secretion of insulin in response to glucose ingestion.

Case studies, Causes of, Metabolism, Inborn errors of, Inborn errors of metabolism

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