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Peroxisomal thiolase deficiency

MedGen UID:
288559
•Concept ID:
C1533628
•
Disease or Syndrome
Synonyms: Pseudo Zellweger syndrome leukodystrophy; Pseudo-Zellweger syndrome
SNOMED CT: Peroxisomal thiolase deficiency (238067002); Pseudo-Zellweger syndrome (238067002); 3-Ketoacyl-CoA thiolase deficiency (238067002)

Professional guidelines

PubMed

Prenatal and perinatal diagnosis of peroxisomal disorders.
Schutgens RB, Schrakamp G, Wanders RJ, Heymans HS, Tager JM, van den Bosch H
J Inherit Metab Dis 1989;12 Suppl 1:118-34. doi: 10.1007/BF01799291. PMID: 2509803

Recent clinical studies

Etiology

Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis.
Verhoeven NM, Jakobs C, ten Brink HJ, Wanders RJ, Roe CR
J Inherit Metab Dis 1998 Oct;21(7):753-60. doi: 10.1023/a:1005449200468. PMID: 9819705
Prenatal and perinatal diagnosis of peroxisomal disorders.
Schutgens RB, Schrakamp G, Wanders RJ, Heymans HS, Tager JM, van den Bosch H
J Inherit Metab Dis 1989;12 Suppl 1:118-34. doi: 10.1007/BF01799291. PMID: 2509803
Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studies.
Schutgens RB, Wanders RJ, Nijenhuis A, van den Hoek CM, Heymans HS, Schrakamp G, Bleeker-Wagemakers EM, Delleman JW, Schram AW, Tager JM
Enzyme 1987;38(1-4):161-76. doi: 10.1159/000469202. PMID: 3440444

Diagnosis

Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.
Clayton PT, Patel E, Lawson AM, Carruthers RA, Collins J
J Clin Invest 1990 Apr;85(4):1267-73. doi: 10.1172/JCI114563. PMID: 2318981Free PMC Article
Prenatal and perinatal diagnosis of peroxisomal disorders.
Schutgens RB, Schrakamp G, Wanders RJ, Heymans HS, Tager JM, van den Bosch H
J Inherit Metab Dis 1989;12 Suppl 1:118-34. doi: 10.1007/BF01799291. PMID: 2509803
Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studies.
Schutgens RB, Wanders RJ, Nijenhuis A, van den Hoek CM, Heymans HS, Schrakamp G, Bleeker-Wagemakers EM, Delleman JW, Schram AW, Tager JM
Enzyme 1987;38(1-4):161-76. doi: 10.1159/000469202. PMID: 3440444

Clinical prediction guides

Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis.
Verhoeven NM, Jakobs C, ten Brink HJ, Wanders RJ, Roe CR
J Inherit Metab Dis 1998 Oct;21(7):753-60. doi: 10.1023/a:1005449200468. PMID: 9819705
Characterization of the gene encoding human peroxisomal 3-oxoacyl-CoA thiolase (ACAA). No large DNA rearrangement in a thiolase-deficient patient.
Bout A, Franse MM, Collins J, Blonden L, Tager JM, Benne R
Biochim Biophys Acta 1991 Aug 27;1090(1):43-51. doi: 10.1016/0167-4781(91)90035-k. PMID: 1679347

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