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Dergiler / Turkish Journal of Pediatrics / 2019 / Cilt: 61 - Sayı: 2

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

Mehmet GÜNDÜZ
Özlem ÜNAL
Aynur Küçükçongar YAVAŞ
Çiğdem KASAPKARA
Sayfa
289–291
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

We suggest that checking VLCFA analysis may be useful in isolatedelevated liver enzymes with unknown etiology.

📌 3 Maddede Bu Makale

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Amaç & Hipotez: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.
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Temel Bulgular & Veri:The patient was referred for elevated liverenzymes when he was 10 months old.
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Sonuç & Katkı:We suggest that checking VLCFA analysis may be useful in isolatedelevated liver enzymes with unknown etiology.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

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.

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Bu Makaleye Atıf Yap

GÜNDÜZ, M., ÜNAL, Ö., YAVAŞ, A. K., KASAPKARA, Ç. (2019). Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes. Turkish Journal of Pediatrics, Cilt: 61 - Sayı: 2, 289–291. https://ajindex.com/articles/411891

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Kaynakça (9)

  1. Ferdinandusse S, Denis S, Clayton PT, et al. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nature Genet 2000; 24: 188-191.
  2. Van Veldhoven PP, Meyhi E, Squires RH, et al. Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency. Eur J Clin Invest 2001; 31: 714-722.
  3. Setchell KD, Heubi JE, Bove KE, et al. Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. Gastroenterology 2003; 124: 217-232.
  4. Clarke CE, Alger S, Preece MA, et al. Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency. Neurology 2004; 63: 188-189.
  5. Thompson SA, Calvin J, Hogg S, Ferdinandusse S, Wanders RJA, Barker RA. Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency. J Neurol Neurosurg Psychiatry 2008; 79: 448-450.
  6. Dick D, Horvath R, Chinnery PF. AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. Neurology 2011; 76: 1768-1770.
  7. Hamel Y, Mamoune A, Mauvais FX, et al. Acute rhabdomyolysis and inflammation. J Inherit Metab Dis 2015; 38: 621-628.
  8. Wanders RJA, Aubourg P, Poll-The BT. Inborn errors of non-mitochondrial fatty acid metabolism including peroxisomal disorders. In: Saudubray JM, Baumgartner MR, Walter JH (ed). Inborn Metabolic Diseases (6th ed). Berlin, Heidelberg: Springer, 2016: 597-598.
  9. Smith EH, Gavrilov DK, Oglesbee D, et al. An adult onset case of alpha-methyl-acyl-CoA racemase deficiency. J Inherit Metab Dis 2010; 33(Suppl 3): S349-S353. Haugarvoll K, Johansson S, Tzoulis C, et al. MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet J Rare Dis 2013; 8: 1.