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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
In the presence of defective processing of peroxisomal matrix proteins, these enzymes are found in the cytosol, where some, such as the oxidase and thiolase, are degraded rapidly, while catalase accumulates and is degraded more slowly than in normal cells [85]. Among the consequences of defective peroxisomal assembly is a variety of abnormalities of morphogenesis. These are most notable externally in Zellweger syndrome, but abnormal neuronal migration takes place in neonatal ALD, as well as Zellweger syndrome [85, 86]. Abnormal migration is demonstrable in fetal tissue. Neurons normally found in the outer layers of the cerebral cortex are found in inner layers and in the white matter. Abnormal migration leads to microgyria and to thick pachygyria. Abnormal migration is not seen in rhizomelic chondrodysplasia punctata, and other peroxisomal disorders in which plasmalogen synthesis is defective, so this could not be the mechanism of the abnormal migration. On the other hand, VLCFA do not accumulate in the chondrodysplasias, so this could be involved in the abnormal neuronal pathogenesis [86]. Deficiency of plasmalogens makes cells sensitive to ultraviolet irradiation [87].
Mitochondrial and peroxisomal disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
Patients who have a disorder of peroxisomal biogenesis lack normal peroxisomes. Four conditions are recognised: Zellweger syndrome (ZS)neonatal adrenoleukodystrophy (NALD)infantile Refsum disease (IRD)rhizomelic chondrodysplasia punctata (RCDP).
Inborn errors of metabolism
Published in Martin Andrew Crook, Clinical Biochemistry & Metabolic Medicine, 2013
In this group of disorders there is either a deficiency of a peroxisomal enzyme or a defect in forming intact peroxisomes. There are probably about 20 of these disorders affecting about 1 in 30 000 individuals. Peroxisomes are involved in a number of metabolic processes. The following are some of the defects that have been described: defects of phytanic acid oxidation (Refsum’s disease), dihydroxyacetone phosphate acyltransferase abnormality (Zellweger’s syndrome), catalase defects (neonatal adrenoleucodystrophy), and abnormal plasmalogen biosynthesis (rhizomelic chondrodysplasia punctata).
Clinical utility of reproductive carrier screening for preconception and pregnant couples for multiple genetic conditions: a systematic review and meta-analysis
Published in Expert Review of Molecular Diagnostics, 2023
Tianjiao Wang, Debra Kiss, Kathleen McFadden, Joshua Byrnes, Paul Scuffham, Martin B Delatycki, Martin Downes
The screened conditions varied substantially across the studies, ranging from three to 176 (Table 1). Three studies reported on programs that screened for three different conditions, two of which screened for TSD, Gaucher disease (GD), and cystic fibrosis (CF) mainly in an Ashkenazi Jewish population [27,29]. Another study reported on a program that screened for CF, fragile X syndrome (FXS), and spinal muscular atrophy (SMA) in an Australian population, which are the most common autosomal recessive and X-linked conditions in Australia [6]. One study reported on a program that screened four conditions in the Dutch population, including pontocerebellar hypoplasia type 2, fetal akinesia deformation sequence, rhizomelic chondrodysplasia punctata type 1, and osteogenesis imperfecta type IIB/III [30]. The most recently published study reported on a program that screened 22 conditions. The remaining six studies reported on programs that screened for between 98 to 176 conditions (Table 1).