Pseudo-Zellweger Syndrome

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Classification according to ICD-10
E71.3 Fatty acid metabolism disorders
ICD-10 online (WHO version 2019)

The pseudo-Zellweger syndrome is no longer a common name for D-bifunctional enzyme deficiency (DBP deficiency) , a very rare congenital disease with a disturbance of the fatty acid metabolism in the peroxisomes .

The disease is summarized with the neonatal Refsum syndrome (IRD) and neonatal adrenoleukodystrophy (NALD) as a peroxisome biogenesis defect (peroxisome biogenesis defect -Zellweger syndrome spectrum).

Compared to the “real” Zellweger syndrome, there are still the CADDS , synonyms: Zellweger-like-contiguous gene deletion syndrome; ABCD1-DXS1357E-Contiguous deletion syndrome and the Ahn-Lerman-Sagie syndrome , synonym: Zellweger-like syndrome without delineating anomalies of the peroxysomes .

Synonyms are: thiolase deficiency; English D-Bifunctional Protein Deficiency; 17-Beta-Hydroxysteroid Dehydrogenase IV Deficiency; DBP Deficiency; Peroxisomal Bifunctional Enzyme Deficiency; PBFE Deficiency

The first description is from 1989 by PA Watkins and co-workers.

distribution

The frequency is given as 1 in 100,000 newborns, inheritance is autosomal - recessive .

root cause

The disease are mutations in HSD17B4 - gene on chromosome 5 locus Q23.1 basis.

classification

Depending on the impaired enzyme activity of the Β-oxidation , a classification can be made into

  • Type I with a deficiency of 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase
  • Type II with only 2-enoyl-CoA hydratase deficiency
  • Type III with only 3-hydroxyacyl-CoA dehydrogenase deficiency

Clinical manifestations

Clinical criteria are:

There are less severe forms of the disease, also known as type IV , that are similar to Perrault's syndrome .

diagnosis

The diagnosis can already be made prenatally based on the protein defect in amniotic cell cultures .

Prospect of healing

The prognosis for types I - III is poor, with most children dying within the first few years of life.

literature

  • S. Goldfischer, J. Collins, I. Rapin, P. Neumann, W. Neglia, AJ Spiro, T. Ishii, F. Roels, J. Vamecq, F. Van Hoof: Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities. In: The Journal of pediatrics. Vol. 108, No. 1, January 1986, pp. 25-32, PMID 2868085 .
  • Y. Nakada, N. Hyakuna, Y. Suzuki, N. Shimozawa, E. Takaesu, R. Ikema, K. Hirayama: A case of pseudo-Zellweger syndrome with a possible bifunctional enzyme deficiency but detectable enzyme protein. Comparison of two cases of Zellweger syndrome. In: Brain & development. Vol. 15, No. 6, 1993 Nov-Dec, pp. 453-456, PMID 8147505 .

Individual evidence

  1. ↑ Pseudo-Zellweger syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ D-bifunctional enzyme deficiency. In: Orphanet (Rare Disease Database).
  3. ↑ Peroxisome biogenesis defect. In: Orphanet (Rare Disease Database).
  4. ↑ CADDS. In: Orphanet (Rare Disease Database).
  5. ↑ Zellweger-like syndrome with no abnormalities of the peroxysomes. In: Orphanet (Rare Disease Database).
  6. ^ PA Watkins, WW Chen, CJ Harris, G. Hoefler, S. Hoefler, DC Blake, A. Balfe, RI Kelley, AB Moser, ME Beard: Peroxisomal bifunctional enzyme deficiency. In: The Journal of clinical investigation. Vol. 83, No. 3, March 1989, pp. 771-777, doi: 10.1172 / JCI113956 , PMID 2921319 , PMC 303746 (free full text).
  7. ↑ a b Genetics Home Reference
  8. ↑ a b c d D-bifunctional protein deficiency.  In: Online Mendelian Inheritance in Man . (English)
  9. ↑ HJ McMillan, T. Worthylake, J. Schwartzentruber, CC Gottlieb, SE Lawrence, A. Mackenzie, CL Beaulieu, PA Mooyer, RJ Wanders, J. Majewski, DE Bulman, MT Geraghty, S. Ferdinandusse, KM Boy: Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. In: Orphanet Journal of Rare Diseases. Vol. 7, November 2012, p. 90, doi: 10.1186 / 1750-1172-7-90 , PMID 23181892 , PMC 3551712 (free full text).
  10. ↑ Y. Suzuki, LL Jiang, M. Souri, S. Miyazawa, S. Fukuda, Z. Zhang, M. Une, N. Shimozawa, N. Kondo, T. Orii, T. Hashimoto: D-3-hydroxyacyl- CoA dehydratase / D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder. In: American Journal of Human Genetics . Vol. 61, No. 5, November 1997, pp. 1153-1162, doi: 10.1086 / 301599 , PMID 9345094 , PMC 1716023 (free full text).

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