Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake

Keyphrases

• Autosomal Recessive 25%
• Biallelic 50%
• Blood Lactate 25%
• Caloric Intake 100%
• Clinical Course 25%
• Clinical Presentation 25%
• Clinical Suspicion 25%
• Confirmatory Test 25%
• Growth Failure 100%
• Growth Onset 25%
• Growth Restriction 25%
• Hispanic Male 25%
• Hypoglycemia 50%
• Inborn Errors of Metabolism 25%
• Lactic Acidosis 25%
• Liver Failure 25%
• Metabolic Profiling 25%
• Molecular Confirmation 25%
• New Onset 25%
• Novel Missense Variant 100%
• Nutritional Intervention 25%
• Pathogenic Variants 25%
• PCK1 100%
• Phosphoenolpyruvate Carboxylase 100%
• Poor Clinical Outcomes 25%
• Transaminitis 25%
• Urinary Metabolites 25%

Medicine and Dentistry

• Autosomal Recessive Inheritance 50%
• Caloric Intake 100%
• Disease Course 50%
• Diseases 50%
• Elevated Transaminases 50%
• Growth Disorder 100%
• Hypoglycemia 100%
• Inborn Error of Metabolism 50%
• Lactic Acid 50%
• Lactic Acidosis 50%
• Liver Failure 50%
• Metabolite 50%
• Nutritional Intervention 50%