Mucolipidosis
| Mucolipidosis | |
|---|---|
| Other names | ML |
| Mucolipidosis has an autosomal recessive pattern of inheritance | |
| Specialty | Endocrinology |
Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells.[1]
When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses.[2] A biochemical understanding of these conditions has changed how they are classified. Four conditions (types I, II, III, and IV) were historically labeled as mucolipidoses. However, type I (sialidosis) is now classified as a glycoproteinosis,[2] and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis.[3]
- ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Mucolipidosis type II". www.orpha.net. Retrieved 2017-05-16.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ a b Julia A. McMillan; Ralph D. Feigin; Catherine DeAngelis; M. Douglas Jones (1 April 2006). Oski's pediatrics: principles & practice. Lippincott Williams & Wilkins. pp. 1–. ISBN 978-0-7817-3894-1. Retrieved 3 November 2010.
- ^ "ICD-10". Retrieved 2010-11-03.