Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis-Reference-Cited by-同舟云学术

Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis

Published:2020-06-30 Issue:1 Volume:55 Page:26-31
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Conlon Tracey A.¹²^ORCID,Fitzsimons Patricia E.³,Borovickova Ingrid³,Kirby Fidelma⁴,Murphy Sinéad²⁵,Knerr Ina¹²,Crushell Ellen¹²

Affiliation:

1. National Centre for Inherited Metabolic Disorders Children's Health Ireland at Temple Street Dublin Ireland

2. School of Medicine University College Dublin Dublin Ireland

3. Department of Paediatric Laboratory Medicine Children's Health Ireland at Temple Street Dublin Ireland

4. Department of Paediatric Intensive Care Children's Health Ireland at Temple Street Dublin Ireland

5. Department of General Paediatrics Children's Health Ireland at Temple Street Dublin Ireland

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12146

Reference20 articles.

1. Ketone body metabolism and its defects

2. Inborn errors of ketogenesis and ketone body utilization

3. Fasting Hypoketotic Coma in a Child with Deficiency of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase

4. Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features

5. A Japanese case of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia

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