3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
Abstract: Background
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL.
Method
We performed a systematic literature search to identify all published cases. Two hundred eleven patients of whom relevant clinical data were available were included in this analysis. Clinical course, biochemical findings and mutation data are highlighted and discussed. An overview on all published HMGCL variants is provided.
Results
More than 95% of patients presented with acute metabolic decompensation. Most patients manifested within the first year of life, 42.4% already neonatally. Very few individuals remained asymptomatic. The neurologic long-term outcome was favorable with 62.6% of patients showing normal development.
Conclusion
This comprehensive data analysis provides a systematic overview on all published cases with HMGCLD including a list of all known HMGCL mutations
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
Orphanet journal of rare diseases. - 15, 1 (2020) , 48, ISSN: 1750-1172
- Ereignis
-
Veröffentlichung
- (wo)
-
Freiburg
- (wer)
-
Universität
- (wann)
-
2020
- Urheber
- DOI
-
10.1186/s13023-020-1319-7
- URN
-
urn:nbn:de:bsz:25-freidok-1551131
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
25.03.2025, 13:43 MEZ
Datenpartner
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Grünert, Sarah
- Sass, Jörn Oliver
- Universität
Entstanden
- 2020
Ähnliche Objekte (12)
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency
Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency: An Artefact in the Analysis of Urinary Organic Acids
Parkinson's disease : many diseases with many faces
3-Hydroxy-3-Methylglutaryl-Coenzym A-Lyase-Mangel : klinischer Verlauf und pathobiochemische Grundlagen
The many faces of clay
Polyurethanes : materials with many faces
The Many Faces of FKBP51
The many faces of osteoarthritis
The many faces of Nefertiti
The many faces of English -ing
Many Faces of Symmetric Edge Polytopes
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency
Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency: An Artefact in the Analysis of Urinary Organic Acids
Parkinson's disease : many diseases with many faces
3-Hydroxy-3-Methylglutaryl-Coenzym A-Lyase-Mangel : klinischer Verlauf und pathobiochemische Grundlagen
The many faces of clay
Polyurethanes : materials with many faces
The Many Faces of FKBP51
The many faces of osteoarthritis
The many faces of Nefertiti
The many faces of English -ing
Many Faces of Symmetric Edge Polytopes
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency
Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency: An Artefact in the Analysis of Urinary Organic Acids
Parkinson's disease : many diseases with many faces
3-Hydroxy-3-Methylglutaryl-Coenzym A-Lyase-Mangel : klinischer Verlauf und pathobiochemische Grundlagen
The many faces of clay
Polyurethanes : materials with many faces
The Many Faces of FKBP51
The many faces of osteoarthritis
The many faces of Nefertiti
The many faces of English -ing