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Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B
BACKGROUND: Pyruvate carboxylase (PC) is a key enzyme for gluconeogenesis. PC deficiency (PCD) is an extremely rare autosomal recessive metabolic disease and is divided into three types. Type B PCD is clinically featured by lactic acidosis, hyperammonemia, hypercitrullinemia, hypotonia, abnormal mov...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10360024/ https://www.ncbi.nlm.nih.gov/pubmed/37484962 http://dx.doi.org/10.3389/fendo.2023.1199590 |