Severe transient neonatal hyperinsulinism associated with hyperlactataemia in non-asphyxiated infants

K Hussain1, P S Thornton, T Otonkoski

  • 1The London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children and the Institute of Child Health, University College London, UK. K.Hussain@ich.ucl.ac.uk

Insights

Transient hyperinsulinism (HI) and lactic acidosis in neonates is rare. This study describes five infants with this combination, suggesting potential links to metabolic pathway immaturity.

Area of Science:

  • Neonatology
  • Pediatric Endocrinology
  • Biochemistry

Background:

  • Transient hyperinsulinism (HI) is observed in infants of diabetic mothers, those with perinatal asphyxia, and intrauterine growth retardation.
  • Lactic acidosis in neonates often results from hypoxia, hypovolemia, anemia, or infection.
  • The co-occurrence of transient HI and lactic acidosis is uncommon, and its underlying mechanisms are not fully elucidated.

Purpose of the Study:

  • To describe the clinical and biochemical characteristics of infants presenting with transient hyperinsulinism and hyperlactatemia.
  • To investigate the association between transient hyperinsulinism and lactic acidosis in the absence of typical perinatal stress markers.

Main Methods:

  • Clinical case series presentation.
  • Biochemical analysis of plasma lactate levels in affected infants.

Main Results:

  • Five infants presented with transient hyperinsulinism and hyperlactatemia without indicators of perinatal stress.
  • This combined condition persisted for 3-4 weeks in most cases, with one infant showing resolution at 6 months.
  • The precise mechanism remains unclear, possibly involving pyruvate dehydrogenase complex immaturity or abnormal intramitochondrial metabolites.

Conclusions:

  • Transient hyperinsulinism associated with hyperlactatemia can occur in neonates without overt perinatal stress.
  • Further investigation into metabolic pathway development, such as the pyruvate dehydrogenase complex, is warranted.
  • Measuring plasma lactate levels in infants presenting with hyperinsulinism is recommended.

Related Concept Videos

Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility, suggesting a...
Hypoglycemia and Glucagon01:15

Hypoglycemia and Glucagon

Without prolonged fasting, healthy individuals maintain blood glucose levels above 3.5 mM due to a well-adapted neuroendocrine counterregulatory system that effectively prevents acute hypoglycemia, a potentially life-threatening condition. The primary clinical scenarios for hypoglycemia encompass diabetes treatment, inappropriate production of endogenous insulin or insulin-like substances by tumors, and the use of glucose-lowering agents in non-diabetic individuals. Notably, hypoglycemia in the...
Hypoglycemia01:26

Hypoglycemia

Hypoglycemia is a blood glucose level below 70 mg/dL. It commonly occurs in individuals using insulin or insulin-secreting drugs, but may also arise in non-diabetic conditions. People with type 1 diabetes are at the highest risk because they depend on exogenous insulin. People with type 2 diabetes are also at risk, especially when treated with insulin or medications such as sulfonylureas, which increase insulin release regardless of blood glucose levels. It develops when insulin levels exceed...
Diabetic Ketoacidosis l: Introduction01:25

Diabetic Ketoacidosis l: Introduction

DefinitionDiabetic ketoacidosis (DKA) is an acute, life-threatening complication of diabetes mellitus, characterized by a triad of hyperglycemia (blood glucose >250 mg/dL), ketonemia or ketonuria, and metabolic acidosis (arterial pH <7.30 and serum bicarbonate <18 mEq/L). It results from insulin deficiency combined with elevated levels of counterregulatory hormones—glucagon, catecholamines, cortisol, and growth hormone—leading to increased lipolysis, hepatic ketone production, and...