RESUMO
Cytosolic PEPCK deficiency (PCKDC) is a rare autosomal recessive inborn error of metabolism, which can present with hypoglycemia, lactic acidosis, and liver failure. It is caused by biallelic pathogenic variants in the PCK1 gene. Only four PCK1 variants have been previously reported in seven patients with PCKDC, and their clinical course of this condition has not been well characterized. Here, we report a Hispanic male with novel biallelic PCK1 variants, p.(Gly430Asp) and p.(His496Gln), who had a unique clinical presentation. He presented with a new onset of growth failure, elevated blood lactate, transaminitis, and abnormal urine metabolites profile, but he has not had documented hypoglycemia. Growth restriction happened due to insufficient caloric intake, and it was improved with nutritional intervention. PCKDC is a manageable disorder and therefore appropriate nutritional and clinical suspicion from typical lab abnormalities which lead to molecular confirmation tests are essential to prevent poor clinical outcomes.
Assuntos
Códon sem Sentido , Ingestão de Energia/genética , Insuficiência de Crescimento/genética , Transtornos do Crescimento/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Fosfoenolpiruvato Carboxiquinase (GTP)/genética , Sequência de Aminoácidos , Peso ao Nascer , Pré-Escolar , Ciclo do Ácido Cítrico , Citosol/enzimologia , Insuficiência de Crescimento/sangue , Insuficiência de Crescimento/urina , Feminino , Preferências Alimentares , Genótipo , Transtornos do Crescimento/sangue , Transtornos do Crescimento/urina , Humanos , Alimentos Infantis , Peptídeos e Proteínas de Sinalização Intracelular/deficiência , Masculino , Microcefalia/genética , Linhagem , Fosfoenolpiruvato Carboxiquinase (GTP)/deficiência , Gravidez , Complicações na Gravidez , Convulsões , Alinhamento de Sequência , Homologia de Sequência de AminoácidosRESUMO
Methylmalonic acidemia (MMA) is caused by a deficiency of methyl-malonyl-CoA mutase. It is a multisystemic condition with poor clinical outcomes characterized by frequent metabolic decompensation with acidosis, hyperammonemia and encephalopathy. Restriction of intact protein and supplementation with amino acid-based formula play an important role in its management. Recently, liver transplant (LT) became a treatment option for MMA patients. However, there has been no current consensus on the post-operative nutrition management for MMA patients undergoing transplant, particularly during the initial phase of recovery period with catabolic stressors. We performed a retrospective analysis of clinical and nutritional management as well as biochemical profiles before and after LT in five patients with MMA. Through this study, we observed significant improvement of MMA-associated metabolites after LT. MMA patients were able to tolerate increased intact protein intake post-operatively. At least 1-1.5 g/kg/day of total protein during the acute phase after transplant may be tolerated without worsening of the metabolite levels. This information provides a guide in how to nutritionally manage MMA after LT.