China
Africa
Explore chapters and articles related to this topic
Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Hepatomegaly may be progressive [3]. Levels of transaminase activity in the blood may be elevated [3]. With time, there is little evidence of developmental progress. One patient could smile and roll from supine position at between seven and nine months, but lost these functions shortly thereafter. Another developed some lateral head movement and a smile, which she lost after 12 months [3]. One patient had a cataract [3]. Most patients have died before the second birthday [1, 3, 9]. Mean age of death of the patients was 15 months, while in classical Zellweger syndrome it was 5.7 months. In neonatal ALD, death has occurred as early as four months. A small number of patients have survived to teenage, albeit severely handicapped and dysmorphic, while some patients with infantile Refsum disease have reached adulthood [24, 25]. Impaired hearing and retinopathy have suggested a diagnosis of Usher syndrome. The mental age of patients has seldom exceeded 12 months and some have regressed at three to five years.
Metabolic Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephanie Grünewald, Alex Broomfield, Callum Wilson
There is no specific treatment for these disorders. The prognosis for the severe Zellweger form of the disease is very poor, with death usually in the first year of life. Children with infantile Refsum disease can live much longer with very little disease progression.
Putative adjunct therapies to target mitochondrial dysfunction and oxidative stress in phenylketonuria, lysosomal storage disorders and peroxisomal disorders
Published in Expert Opinion on Orphan Drugs, 2020
Nadia Turton, Tricia Rutherford, Dick Thijssen, Iain P Hargreaves
Peroxisomes are membrane-bound organelles which contain around 50 different enzymes to fulfil their critical roles in a range of metabolic processes including catabolism of polyamines, prostaglandins, purines and eicosanoids, ether phospholipid biosynthesis, fatty acid oxidation, peroxide and ROS metabolism, glyoxylate clearing, and possibly the biosynthesis of isoprenoids [64]. Peroxisomal disorders are heterogeneous metabolic diseases that result from either mutations in genes that encode peroxisomal enzymes (Refsum disease and adrenoleucodystrophy: ALD) [65,66] or occur as the result of defects in peroxisome biogenesis (Zellweger syndrome spectrum disorders and Rhizomelic chondrodysplasia punctate: RCDP) [67]. Peroxisome biogenesis disorders encompass two phenotypic groups: 1. Zellweger syndrome, neonatal ALD, and infantile Refsum disease, which all belong to the Zellweger syndrome spectrum of diseases, and 2. RCDP1 [67].
Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene
Published in Ophthalmic Genetics, 2020
Fahimeh Beigi, Marta Del Pozo-Valero, Inmaculada Martin-Merida, Mohammad Yahya Vahidi Mehrjardi, Masoud Reza Manaviat, Amir Sherafat, Carmen Ayuso, Nasrin Ghasemi
The differential diagnosis for RP and neurologic degeneration includes Refsum disease, other peroxisomal disorders, beta-lipoproteinemia, neuropathy, ataxia and RP (NARP), rare forms of Charcot–Marie–Tooth, PNPLA6-related disorders, and disorders of copper metabolism. Plasmatic phytanic acid level, vitamin E levels, B12 levels, ceruloplasmin level, cholesterol levels, and plasma lactate levels were all normal. There was no evidence of demyelination, and audiometry was within normal limits distinguishing from Refsum disease or other Zellweger spectrum disorders. Interestingly, despite posterior column neurologic findings on examination (areflexia and reduced proprioception), spinal MRI was within normal limits and no posterior column hyperintensity was observed, as it was previously reported by Puffenberger et al. (7).
Macular atrophy in JAG1-related Alagille syndrome: a case series
Published in Ophthalmic Genetics, 2022
Manuel Paez-Escamilla, Hannah L. Scanga, Alkiviades Liasis, Ken K. Nischal
To evaluate other retinal disorders, NGS of 280 retinal dystrophy genes was sent. One pathogenic splice site variant was detected in PHYH (c.135–2A>G), associated with Refsum Disease. Phytanic acid and very long-chain fatty acids were within normal limits, and no second rare or potentially disease-causing variant was identified by PHYH sequencing or deletion/duplication analysis. Heterozygous variants of uncertain significance were also detected in the CLN3 and CNNM4 genes. No other genetic etiology was identified of note; the JAG1 deletion was not detected by this test as detection of copy number variants affecting multiple exons was a known limitation of NGS technology in 2016, when this test was performed.