Year: 2024
Type: article
Study design: Case Report
Abstract: Background: Mitochondrial disorders (MD) represent a clinical, biochemical, and genetic heterogeneous group of diseases.Any organ can be affected.In general, neurological symptoms guide the diagnosis.Endocrinopathies are uncommon in infants and when they occur, one or multiple glands can be affected.Case presentation: We describe the severe presentation of MD in an infant.A 1-month-old infant developed lactic acidosis, myoclonic jerks, diabetes mellitus, and hypoparathyroidism.Determination of mitochondrial respiratory chain enzyme activity revealed combined deficiencies in complexes I and IV.Conclusion: Pediatric endocrinologists should consider the diagnosis of MD in patients with polyendocrinopathies and simultaneous multiorgan involvement.
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4402631983