ArticleCureus2021
A Unique Case of Pyruvate Carboxylase Deficiency.
Article in Cureus, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 7 citations in OpenAlex.
- The presence of pyruvate carboxylase in the human brain and its role in the survival of cultured human astrocytes.Physiological research · 2023Article
- Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B.Frontiers in endocrinology · 2023Article
- Article
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pyruvate carboxylase (PC) converts pyruvate to oxaloacetate, which is an important step in gluconeogenesis. Pyruvate carboxylase deficiency (PCD) is a rare inherited metabolic disorder characterized by movement disorders, neurologic disturbances, hypoglycemia, lactic acidosis, hyperammonemia, and elevated levels of pyruvate and alanine in plasma. The prognosis for PCD is poor. Most children die within the first six months of life, and those who survive longer have neurological damage and mental disability. This is due to the accumulation of lactic acid and toxic components in the blood. Here we describe the case of a 21-month-old male presenting with abnormal movements and new-onset seizures. His family history is relevant because of parental consanguinity. A genetic analysis showed a novel mutation, homozygous c. 2630A>G (p. Gln877Arg) variant, in the PC gene, a mutation not previously described in the English literature.
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Registered trials
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