A Unique Case of Pyruvate Carboxylase Deficiency

Abstract

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Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B

“…The three previous cases were all confirmed as PCD type A and two of them died at about 1 and 3 years of age, respectively (2-4). Consistent with previous reports, a fatal outcome in the neonatal period was observed in patients with PCD type B, while most patients with type A could survive to infancy or early childhood (5,9). PC gene dysfunction is passed on to offspring in an autosomal recessive manner (1).…”

“…Type A is featured by developmental delays, hyperlactatemia, and increased acidity in the blood which can lead to vomiting, abdominal pain, extreme fatigue, muscle weakness, and difficulty breathing. In severe cases, death occurs in infancy or early childhood (5,6). Type B (severe neonatal type) was reported mainly in Europe.…”

PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report

“…To the best of our knowledge, this is the first case to be reported among the Chinese population ( 4 – 9 , 13 , 14 , 16 , 19 – 21 ). The patient had 6-times higher metabolic acidosis, accompanied by increased levels of lactic acid, blood ammonia, and pyruvate.…”

“…For the differential diagnosis of PCD, practitioners should focus on identifying other hereditary metabolic diseases that cause hyperlactatemia and abnormal neurodevelopment, such as carbohydrate metabolic diseases, including type-I glycogen accumulation syndrome (GSD1) ( 15 ), pyruvate dehydrogenase complex deficiency (PDHCD) ( 16 ), hereditary fructose intolerance ( 17 ), and the fructose-1,6-bisphosphatase deficiency (1,6-FBD) ( 18 ). These disorders can be distinguished based on the fact that hypoglycemia and hepatomegaly are common in type I glycogen accumulation syndrome and fructose-1,6-bisphosphatase deficiency but not in PCD, where these effects are only seen in individuals with the type B form.…”

Deficiência em piruvato carboxilase – uma abordagem bioquímica

“…Resultados: Nos doentes estudados, registaram-se várias alterações bioquímicas no soro e urina tais como o aumento de piruvato, alanina, citrulina e lisina e a diminuição de glutamina e aspartato, resultando numa menor atividade do ciclo secundário da ureia e na produção do oxaloacetato, impedindo o fígado de realizar a oxidação de acetil-CoA, entrando em cetose e limitando a gliconeogénese. O fluído cérebroespinal também reflete estas alterações [4,5]. No caso clínico estudado, 2 bebés recém-nascidos apresentaram citrulina elevada, mas, restantes valores normais.…”