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I'm a Digger |
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My
Special Interests are in the following
Gene and I were grandparents of a child with Peroxisomal Disorder. It is the reason for these pages.
PEROXISOMAL
DISORDERS The purpose of these pages is for support and information for families and caregivers of children with NALD AND IRD. These pages are no way an offering of medical advice, but to be a link for information. There are approximately 17 Peroxisomal disorders currently known. They fall into three groups: Peroxisomal biogenesis disorder PBD Peroxisomal biogenesis disorders (PSD) are
referred to as the peroxisome assembly disorders or the peroxisomal polydystrophy
syndromes: ZS, NALD, and IRD have so many features in common, biochemically, genetically and clinically the they are usually considered a single disease with ZS being the most severe and IRD the least. There are also some distinct differences between them. They all involve the same generalized failure of impaired synthesis of ether-phospholipids, impaired synthesis of docosahexaenoic acid and impaired oxidation of very long fatty acids. Neonatal adrenoleukodystrophy (NALD) has many characteristics in common with ZS and some differences. There is liver disease. The adrenal glands are diseased and there is abnormalities of myelination. There is retinal or other eye diseases and also sensorineural hearing loss. These children a prone to seizures and are hypotonic. Their psychomotor development is affected. NALD is usually fatal within the first ten years. For further information: United Leukodystrophy Foundation
Exceptional Parent Online Magazine Macrodactly is an enlargement of soft tissue and underlying bones, usually involving hands and feet. There is abnormal nerve and blood supply. It is not an inherited disease but an abnormality of the genes. |
