Infantile Fructose-1,6-Bisphosphatase Deficiency Masquerading as Mitochondriopathy.
| Autor: | Chandrasekhar V; Paediatrics, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS) Saveetha University, Chennai, IND., Yelkur P; Paediatrics, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS) Saveetha University, Chennai, IND., K V; Paediatrics, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS) Saveetha University, Chennai, IND. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2024 Aug 20; Vol. 16 (8), pp. e67291. Date of Electronic Publication: 2024 Aug 20 (Print Publication: 2024). |
| DOI: | 10.7759/cureus.67291 |
| Abstrakt: | Fructose-1,6-bisphosphatase 1 (FBP1) deficiency is a rare autosomal recessive disorder of gluconeogenesis. Affected children present with severe hypoglycemia and lactic acidosis in infancy. We report a case of a female child, aged one year and six months, born out of a third-degree consanguineous marriage, who initially presented with sudden-onset vomiting episodes and failure to thrive. Despite a clinical suspicion of mitochondrial disorder, biochemical investigations revealed elevated levels of alanine, glycine, lactic acid, pyruvic acid, 3-hydroxy isovaleric acid, fumaric acid, and 4-hydroxy phenylacetic acid. Clinical exome sequencing confirmed homozygous inheritance of a mutated FBP1 gene, establishing the diagnosis of FBP1 deficiency. Differential diagnoses included mitochondrial disorders and transaldolase deficiency, but comprehensive genetic testing excluded these conditions. Management focused on dietary adjustments to avoid simple sugars and increase complex carbohydrates during illness. This case underscores the complexity of diagnosing rare metabolic disorders and highlights the pivotal role of genetic testing in accurate diagnosis and management. Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work. (Copyright © 2024, Chandrasekhar et al.) |
| Databáze: | MEDLINE |
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