Last update 20 Oct 2025

VLCAD Deficiency

Basic Info

Synonyms
ACADVLD, ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF, Acadvl
+ [38]
Introduction
The most severe syndrome in the spectrum of single, large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs), usually presenting shortly after birth with sideroblastic anemia. The condition is often associated with exocrine pancreas insufficiency and multi-system dysfunction including diabetes mellitus, cortisol deficiency, hypothyroidism, hypoparathyroidism, and growth hormone deficiency. Commonly associated clinical findings include the following: failure to thrive, hypotonia, ptosis, ophthalmoparesis, and renal disease.

Analysis

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