An adult onset case of alpha-methyl-Acyl-CoA racemase deficiency

Emily Helen Smith, Dimitar K. Gavrilov, Devin Oglesbee, William D. Freeman, Michael W. Vavra, Dietrich Matern, Silvia Tortorelli

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

α-Methyl-Acyl-CoA-racemase (AMACR) deficiency (OMIM 604489) is a rare peroxisomal disorder with a variable age of onset from infancy to late adulthood. We describe a 45-year-old male with a history of seizures who presented with relapsing encephalopathy. Laboratory studies revealed an elevated serum pristanic acid concentration, an elevated pristanic/phytanic acid ratio, as well as the previously described homozygous mutation in the AMACR gene, c.154T>C, consistent with AMACR deficiency. This homozygous mutation is associated with a variable phenotype ranging from neonatal cholestasis to late-onset sensorimotor neuropathy. Dietary pristanic acid restriction was attempted to improve clinical status and the patient has remained in remission for more than 16 months.

Original languageEnglish (US)
JournalJournal of Inherited Metabolic Disease
Volume33
Issue numberSUPPL. 3
DOIs
StatePublished - 2010

Fingerprint

Racemases and Epimerases
Acyl Coenzyme A
Phytanic Acid
Peroxisomal Disorders
Genetic Databases
Mutation
Cholestasis
Brain Diseases
Age of Onset
Seizures
Phenotype
Serum
Genes
pristanic acid

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

Cite this

Smith, E. H., Gavrilov, D. K., Oglesbee, D., Freeman, W. D., Vavra, M. W., Matern, D., & Tortorelli, S. (2010). An adult onset case of alpha-methyl-Acyl-CoA racemase deficiency. Journal of Inherited Metabolic Disease, 33(SUPPL. 3). https://doi.org/10.1007/s10545-010-9183-6

An adult onset case of alpha-methyl-Acyl-CoA racemase deficiency. / Smith, Emily Helen; Gavrilov, Dimitar K.; Oglesbee, Devin; Freeman, William D.; Vavra, Michael W.; Matern, Dietrich; Tortorelli, Silvia.

In: Journal of Inherited Metabolic Disease, Vol. 33, No. SUPPL. 3, 2010.

Research output: Contribution to journalArticle

Smith, EH, Gavrilov, DK, Oglesbee, D, Freeman, WD, Vavra, MW, Matern, D & Tortorelli, S 2010, 'An adult onset case of alpha-methyl-Acyl-CoA racemase deficiency', Journal of Inherited Metabolic Disease, vol. 33, no. SUPPL. 3. https://doi.org/10.1007/s10545-010-9183-6
Smith, Emily Helen ; Gavrilov, Dimitar K. ; Oglesbee, Devin ; Freeman, William D. ; Vavra, Michael W. ; Matern, Dietrich ; Tortorelli, Silvia. / An adult onset case of alpha-methyl-Acyl-CoA racemase deficiency. In: Journal of Inherited Metabolic Disease. 2010 ; Vol. 33, No. SUPPL. 3.
@article{1a841692918844fca7af037f2d668cb0,
title = "An adult onset case of alpha-methyl-Acyl-CoA racemase deficiency",
abstract = "α-Methyl-Acyl-CoA-racemase (AMACR) deficiency (OMIM 604489) is a rare peroxisomal disorder with a variable age of onset from infancy to late adulthood. We describe a 45-year-old male with a history of seizures who presented with relapsing encephalopathy. Laboratory studies revealed an elevated serum pristanic acid concentration, an elevated pristanic/phytanic acid ratio, as well as the previously described homozygous mutation in the AMACR gene, c.154T>C, consistent with AMACR deficiency. This homozygous mutation is associated with a variable phenotype ranging from neonatal cholestasis to late-onset sensorimotor neuropathy. Dietary pristanic acid restriction was attempted to improve clinical status and the patient has remained in remission for more than 16 months.",
author = "Smith, {Emily Helen} and Gavrilov, {Dimitar K.} and Devin Oglesbee and Freeman, {William D.} and Vavra, {Michael W.} and Dietrich Matern and Silvia Tortorelli",
year = "2010",
doi = "10.1007/s10545-010-9183-6",
language = "English (US)",
volume = "33",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "SUPPL. 3",

}

TY - JOUR

T1 - An adult onset case of alpha-methyl-Acyl-CoA racemase deficiency

AU - Smith, Emily Helen

AU - Gavrilov, Dimitar K.

AU - Oglesbee, Devin

AU - Freeman, William D.

AU - Vavra, Michael W.

AU - Matern, Dietrich

AU - Tortorelli, Silvia

PY - 2010

Y1 - 2010

N2 - α-Methyl-Acyl-CoA-racemase (AMACR) deficiency (OMIM 604489) is a rare peroxisomal disorder with a variable age of onset from infancy to late adulthood. We describe a 45-year-old male with a history of seizures who presented with relapsing encephalopathy. Laboratory studies revealed an elevated serum pristanic acid concentration, an elevated pristanic/phytanic acid ratio, as well as the previously described homozygous mutation in the AMACR gene, c.154T>C, consistent with AMACR deficiency. This homozygous mutation is associated with a variable phenotype ranging from neonatal cholestasis to late-onset sensorimotor neuropathy. Dietary pristanic acid restriction was attempted to improve clinical status and the patient has remained in remission for more than 16 months.

AB - α-Methyl-Acyl-CoA-racemase (AMACR) deficiency (OMIM 604489) is a rare peroxisomal disorder with a variable age of onset from infancy to late adulthood. We describe a 45-year-old male with a history of seizures who presented with relapsing encephalopathy. Laboratory studies revealed an elevated serum pristanic acid concentration, an elevated pristanic/phytanic acid ratio, as well as the previously described homozygous mutation in the AMACR gene, c.154T>C, consistent with AMACR deficiency. This homozygous mutation is associated with a variable phenotype ranging from neonatal cholestasis to late-onset sensorimotor neuropathy. Dietary pristanic acid restriction was attempted to improve clinical status and the patient has remained in remission for more than 16 months.

UR - http://www.scopus.com/inward/record.url?scp=84897956089&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84897956089&partnerID=8YFLogxK

U2 - 10.1007/s10545-010-9183-6

DO - 10.1007/s10545-010-9183-6

M3 - Article

C2 - 20821052

AN - SCOPUS:84897956089

VL - 33

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - SUPPL. 3

ER -