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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...
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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...
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Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
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Hypoglycemia in mitochondrial disorders.

Myla Ashfaq1, Allison R Moats2, Hope Northrup1

  • 1McGovern Medical School at The University of Texas Health Science Center at Houston, Houston, TX, USA; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at The University of Texas Health Science Center at Houston, Houston, TX, USA; The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA.

Mitochondrion
|March 19, 2021
PubMed
Summary
This summary is machine-generated.

Hypoglycemia, or low blood sugar, occurs frequently in mitochondrial disorders. This condition requires early and ongoing blood glucose monitoring, especially in newborns.

Keywords:
Glucose levelHyperglycemiaHypoglycemiaMitochondrial disorder

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Area of Science:

  • Biochemistry
  • Genetics
  • Endocrinology

Background:

  • Mitochondrial disorders are often associated with diabetes and hyperglycemia.
  • The incidence of non-iatrogenic hypoglycemia in these patients is not well-established.
  • Understanding glucose dysregulation is crucial for managing mitochondrial diseases.

Purpose of the Study:

  • To determine the frequency of non-iatrogenic hypoglycemia in patients with mitochondrial disorders.
  • To compare hypoglycemia rates in this population to the general population.
  • To investigate potential differences in hypoglycemia severity, particularly in the neonatal period.

Main Methods:

  • Retrospective analysis of 116 patients diagnosed with mitochondrial disorders.
  • Documentation of hypoglycemic episodes (defined by blood glucose levels).
  • Comparison of hypoglycemia incidence with historical data from the general population.

Main Results:

  • 22 out of 116 patients (18.97%) experienced at least two hypoglycemic episodes.
  • This incidence is significantly higher than the 6% observed in the non-diabetic general population (p < 0.05).
  • Neonatal blood glucose readings were, on average, 30 mg/dL lower than non-neonatal readings.

Conclusions:

  • Non-iatrogenic hypoglycemia is a frequent complication of mitochondrial disorders.
  • Lower blood glucose levels are noted in the neonatal period for these patients.
  • Early and continuous blood glucose monitoring is essential; consider mitochondrial disorders in recurrent hypoglycemia cases.