Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes

Özet

Alpha methy acyl CoA racemase (AMACR) deficiency is a rare autosomalrecessive peroxisomal disorder characterized by cholestatic liver disease inthe neonatal period, and variable neurologic symptoms affecting centraland peripheral nervous systems in the following years. We report a Turkishpatient who was diagnosed with AMACR deficiency with presentation ofisolated elevated liver enzymes. The patient was referred for elevated liverenzymes when he was 10 months old. He had no cholestasis history in theneonatal period. Initially, an etiology could not be identified. Ultimately, thepatient was diagnosed with AMACR deficiency with previously unreportedp.Cys20Tyr (c.596G>A) homozygous pathogenic variant. At last visit, when hewas 7.5 years old, his growth, development and neurologic examination wereall normal. Biochemical analysis was normal except for mildly elevated ASTlevels. We suggest that checking VLCFA analysis may be useful in isolatedelevated liver enzymes with unknown etiology.