# Doença peroxissomal

> Página oficial: https://raras.org/doenca/doenca-peroxissomal
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 68373 — https://www.orpha.net/en/disease/detail/68373
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um grupo de doenças genéticas raras, presentes desde o nascimento, que afetam a forma como o corpo processa as gorduras (metabolismo lipídico). Elas são causadas pela perda ou mau funcionamento dos peroxissomos, estruturas essenciais dentro das células. Os sinais e sintomas podem incluir atrasos no desenvolvimento, deficiência intelectual, características faciais peculiares, aumento do fígado e fraqueza muscular.

## Epidemiologia e herança


## Sinais e sintomas (688 fenótipos HPO)

- **Constrição do campo visual periférico** — HPO: HP:0001133
- **Bloqueio cardíaco** — HPO: HP:0012722
- **Anormalidade da pigmentação retiniana** — HPO: HP:0007703
- **Morfologia anormal do pé** — HPO: HP:0001760
- **Perda visual progressiva** — HPO: HP:0000529
- **Paralisia facial** — HPO: HP:0010628
- **Microftalmia** — HPO: HP:0000568
- **Anormalidade da língua** — HPO: HP:0000157
- **Cristas supraorbitais subdesenvolvidas** — HPO: HP:0009891
- **Parkinsonismo** — HPO: HP:0001300
- **Vitiligo** — HPO: HP:0001045
- **Deficiência auditiva neurossensorial em idosos** — HPO: HP:0040113
- **Displasia esquelética** — HPO: HP:0002652
- **Morfologia anormal da orelha externa** — HPO: HP:0000377
- **Diabetes mellitus tipo 1** — HPO: HP:0100651
- **Neoplasia da laringe** — HPO: HP:0100605
- **Estenose pilórica** — HPO: HP:0002021
- **Nascimento prematuro** — HPO: HP:0001622
- **Anemia microcítica** — HPO: HP:0001935
- **Gengivite** — HPO: HP:0000230
- **Sangramento gengival** — HPO: HP:0000225
- **Periodontite grave** — HPO: HP:0000166
- **Anormalidade da coagulação** — HPO: HP:0001928
- **Prega cutânea nucal espessada** — HPO: HP:0000474
- **Má absorção** — HPO: HP:0002024
- **Anormalidade corioretiniana** — HPO: HP:0000532
- **Displasia renal multicística** — HPO: HP:0000003
- **Opacidade corneana** — HPO: HP:0007957
- **Metacarpo curto** — HPO: HP:0010049
- **Hemiplegia/hemiparesia** — HPO: HP:0004374
- **Displasia ungueal** — HPO: HP:0002164
- **Anormalidade da face** — HPO: HP:0000271
- **Anormalidade do movimento ocular** — HPO: HP:0000496
- **Anormalidade do olho** — HPO: HP:0000478
- **Dor** — HPO: HP:0012531
- **Perda prematura de dentes permanentes** — HPO: HP:0006357
- **Arteriosclerose** — HPO: HP:0002634
- **Mioclonia de membro** — HPO: HP:0045084
- **Atrofia cerebral global** — HPO: HP:0002283
- **Desmielinização difusa da substância branca cerebral** — HPO: HP:0007162
- _...e mais 648 sintomas. Ver https://raras.org/doenca/doenca-peroxissomal._

## Genes associados (31)

- **PEX1** — Peroxisomal ATPase PEX1 [Disease-causing germline mutation(s) in]
  - Função: Component of the PEX1-PEX6 AAA ATPase complex, a protein dislocase complex that mediates the ATP-dependent extraction of the PEX5 receptor from peroxisomal membranes, an essential step for PEX5 recycl
- **EHHADH** — Peroxisomal bifunctional enzyme [Candidate gene tested in]
  - Função: Peroxisomal trifunctional enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase activities. Catalyzes two of the four reactions of the long
- **BCAP31** — B-cell receptor-associated protein 31 [Candidate gene tested in]
  - Função: Functions as a chaperone protein (PubMed:18287538, PubMed:9396746). Is one of the most abundant endoplasmic reticulum (ER) proteins (PubMed:18287538, PubMed:9396746). Plays a role in the export of sec
- **GNPAT** — Dihydroxyacetone phosphate acyltransferase [Disease-causing germline mutation(s) in]
  - Função: Dihydroxyacetonephosphate acyltransferase catalyzing the first step in the biosynthesis of plasmalogens, a subset of phospholipids that differ from other glycerolipids by having an alkyl chain attache
- **PHYH** — Phytanoyl-CoA dioxygenase, peroxisomal [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the 2-hydroxylation of not only racemic phytanoyl-CoA and the isomers of 3-methylhexadecanoyl-CoA, but also a variety of other mono-branched 3-methylacyl-CoA esters (with a chain length of a
- **FAR1** — Fatty acyl-CoA reductase 1 [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (PubMed:15220348, PubMed:24108123, PubMed:35238077). It plays an essential role in the production of et
- **ABCD1** — ATP-binding cassette sub-family D member 1 [Disease-causing germline mutation(s) in]
  - Função: ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen (PubMed:11248239, PubMed
- **CAT** — Glycine N-acyltransferase [Disease-causing germline mutation(s) in]
  - Função: Mitochondrial acyltransferase which transfers an acyl group to the N-terminus of glycine and glutamine, although much less efficiently. Can conjugate numerous substrates to form a variety of N-acylgly
- **ABCD3** — ATP-binding cassette sub-family D member 3 [Disease-causing germline mutation(s) in]
  - Função: Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that catalyzes the transport of long-chain fatty acids (LCFA)-CoA, dicarboxylic acids-CoA, long-branched-
- **AGXT** — Alanine--glyoxylate aminotransferase [Disease-causing germline mutation(s) in]
  - Função: Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification (PubMed:10960483, PubMed:12777626, PubMed:23229545, PubMed:2405
- **HSD17B4** — Peroxisomal multifunctional enzyme type 2 [Disease-causing germline mutation(s) in]
  - Função: Bifunctional enzyme acting on the peroxisomal fatty acid beta-oxidation pathway. Catalyzes two of the four reactions in fatty acid degradation: hydration of 2-enoyl-CoA (trans-2-enoyl-CoA) to produce
- **PEX3** — Peroxisomal biogenesis factor 3 [Disease-causing germline mutation(s) in]
  - Função: Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal me
- **DNM1L** — Dynamin-1-like protein [Disease-causing germline mutation(s) in]
  - Função: Functions in mitochondrial and peroxisomal division (PubMed:11514614, PubMed:12499366, PubMed:17301055, PubMed:17460227, PubMed:17553808, PubMed:18695047, PubMed:18838687, PubMed:19342591, PubMed:1941
- **AMACR** — Alpha-methylacyl-CoA racemase [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the interconversion of (R)- and (S)-stereoisomers of alpha-methyl-branched-chain fatty acyl-CoA esters (PubMed:10655068, PubMed:11060359, PubMed:7649182). Acts only on coenzyme A thioesters,
- **SCP2** — Synaptonemal complex protein 2 [Disease-causing germline mutation(s) in]
  - Função: Major component of the axial/lateral elements of synaptonemal complexes (SCS) during meiotic prophase. Plays a role in the assembly of synaptonemal complexes. Required for normal meiotic chromosome sy

## Ensaios clínicos ativos (5)

- **NCT05003648** [ACTIVE_NOT_RECRUITING]: Treating Leg Symptoms in Women With X-linked Adrenoleukodystrophy — https://clinicaltrials.gov/study/NCT05003648
- **NCT06190626** [RECRUITING]: Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder — https://clinicaltrials.gov/study/NCT06190626
- **NCT04528355** [RECRUITING]: Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC — https://clinicaltrials.gov/study/NCT04528355
- **NCT02171104** [ACTIVE_NOT_RECRUITING]: MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis — https://clinicaltrials.gov/study/NCT02171104
- **NCT06838143** [RECRUITING]: Ilaris NIS in Korea — https://clinicaltrials.gov/study/NCT06838143

## Doenças relacionadas (por similaridade fenotípica)

- [Doença da beta-oxidação peroxissomal](https://raras.org/doenca/doenca-da-beta-oxidacao-peroxissomal) — ORPHA:79188 — 154 sintomas em comum
- [Adrenoleucodistrofia ligada ao X](https://raras.org/doenca/adrenoleucodistrofia-ligada-ao-x) — ORPHA:43 — 131 sintomas em comum
- [Ataxia espástica](https://raras.org/doenca/ataxia-espastica) — ORPHA:316226 — 115 sintomas em comum
- [Doença da biossíntese dos plasmalogênios](https://raras.org/doenca/doenca-da-biossintese-dos-plasmalogenios) — ORPHA:3276 — 114 sintomas em comum
- [Síndrome de hipotonia-transtorno da linguagem-transtorno do desenvolvimento intelectual grave](https://raras.org/doenca/sindrome-de-hipotonia-transtorno-da-linguagem-transtorno-do-desenvolvimento-intelectual-grave) — ORPHA:371364 — 107 sintomas em comum
- [Deficiência de complexo III isolada](https://raras.org/doenca/deficiencia-de-complexo-iii-isolada) — ORPHA:1460 — 105 sintomas em comum
- [Duplicação/triplicação parcial do cromossomo 5](https://raras.org/doenca/duplicacaotriplicacao-parcial-do-cromossomo-5) — ORPHA:262211 — 102 sintomas em comum
- [Monossomia parcial do braço curto do cromossomo 1](https://raras.org/doenca/monossomia-parcial-do-braco-curto-do-cromossomo-1) — ORPHA:261857 — 100 sintomas em comum
- [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 96 sintomas em comum
- [Neuro-hepatopatia de Navajo](https://raras.org/doenca/neuro-hepatopatia-de-navajo) — ORPHA:255229 — 93 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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