3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency: A Case Report and Literature Review
| Autor: | Anne Daly, Steve Kitchen, Alex Pinto, Srividya Sreekantam, Anna Pigott, Ozlem Yilmaz, Saikat Santra, Kathryn Frost, Anita MacDonald, Adam Gerrard, Rachel Hoban |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty medicine.medical_treatment Medicine (miscellaneous) 030105 genetics & heredity Hypoglycemia 03 medical and health sciences Enteral Nutrition 0302 clinical medicine Low-protein diet Leucine Diet Protein-Restricted 3-hydroxy-3-methylglutaryl-CoA lyase deficiency medicine Humans Acetyl-CoA C-Acetyltransferase Amino Acid Metabolism Inborn Errors Gastrostomy Nutrition and Dietetics Metabolic acidosis business.industry Protein Dietary management medicine.disease 3-hydroxy-3-methylglutaryl-CoA lyase Parenteral nutrition Child Preschool Vomiting Ketonuria Female medicine.symptom Acidosis business 030217 neurology & neurosurgery |
| Zdroj: | Nutrición Hospitalaria v.35 n.1 2018 SciELO España. Revistas Científicas Españolas de Ciencias de la Salud instname |
| ISSN: | 1699-5198 0212-1611 |
| Popis: | Introduction: 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is an autosomal recessive disorder that usually presents in the neonatal period with vomiting, metabolic acidosis, hypoglycemia and absent ketonuria. Few cases are reported in the literature, and optimal dietary management and long term outcome are not fully understood. Case report: We report a 2 year old girl with HMG-CoA-lyase deficiency who had limited fasting tolerance on a low protein diet, with several recurrent hospital admissions with severe hypoketotic hypoglycaemia and metabolic acidosis. We also review the dietary management and outcome of other reported cases in the literature. Discussion: In order to define optimal dietary treatment, it is important to collect higher numbers of case studies with detailed dietary management, fasting times and outcome. |
| Databáze: | OpenAIRE |
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