Pyruvate dehydrogenase deficiency in a young boy: a clinical case

• DOI: 10.17816/clinpract629443
• Publication Date: 2024-06-25T14:22:51Z
• Authors: Galina Yu. Porets...; Elena A. Kalinina; Natalia N Korotkova; Olga G. Bolgarova; Natalia N. Kuznet...; Shamil I. Gaisin; Elizaveta O. Besc...
• Keywords: thiamine; 0301 basic medicine; 03 medical and health sciences; children; ketogenic diet; neurometabolic disease; R; neonatal hyperlactatemia; Medicine; muscular hypotension; pyruvate dehydrogenase deficit; neonatal hyperamonemia

BACKGROUND: Pyruvate dehydrogenase deficit is a severe hereditary mitochondrial metabolic disease characterized by impaired energy metabolism and manifested wide range of neurological symptoms. The difficulty in selecting therapy due to insufficient data on the management children with this pathology owing death at an early age diagnosis during life. accurate prevalence unknown, presumably 1 1,000,000, which makes it attributable orphan diseases. CLINICAL CASE DESCRIPTION: This article presents case child rare neurometabolic pyruvate complex E1 deficiency. was suspected after his birth based symptoms, neonatal hyperammonemia, hyperlactatemia confirmed exome sequencing, where homozygous variant nucleotide sequence PDNA1 gene (X-19359612-C-E) determined. At 2 months, he began receive ketogenic diet — high-fat, low-carbohydrate dry mixture for enteral nutrition, therapy, Vit B1 (300 mg/day). indicators biochemical blood testing, acid-base state blood, dynamics picture period observation patient. CONCLUSION: Early initiation crucial physical neuropsychiatric development pathology. Despite lack highly effective etiotropic treatment, some cases, improvement clinical course observed use thiamine preparations adherence diet.