3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis-Reference-Cited by-同舟云学术

3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis

Published:2021-07 Issue:7 Volume:9 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Saneifard Hedyeh¹,Mosallanejad Asieh²,Fallahzadeh Aida³⁴,Sheikhy Ali³⁴^ORCID

Affiliation:

1. Mofid Children's Hospital Shahid Beheshti University of Medical Sciences Tehran Iran

2. Imam Hosein Medical Center Shahid Beheshti University of Medical Sciences Tehran Iran

3. Research Department Tehran Heart Center Tehran University of Medical Sciences Tehran Iran

4. Non‐Communicable Diseases Research Center (NCDRC) Endocrinology and Metabolism Population Sciences Institute Tehran University of Medical Sciences Tehran Iran

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.4528

Reference11 articles.

1. Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

2. ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

3. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

4. Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration

5. Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway

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1. A Fatal Case of 3‐Hydroxyisobutyryl‐CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature;Case Reports in Genetics;2024-01

2. 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency (HIBCHD);Genetic Syndromes;2023