Disorders of sphingolipid metabolism and other lipid storage disorders (E75)
Clinical Information
Canavan Disease - A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)
Cholesterol Ester Storage Disease - An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.
Gaucher Disease - An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Sandhoff Disease - An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.
Waardenburg Syndrome - Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
Instructional Notations
Type 1 Excludes
A type 1 excludes note is a pure excludes note. It means "NOT CODED HERE!" An Excludes1 note indicates that the code excluded should never be used at the same time as the code above the Excludes1 note. An Excludes1 is used when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.
Endocrine, nutritional and metabolic diseases (E00–E89)
Metabolic disorders (E70-E88)
E75 Disorders of sphingolipid metabolism and other lipid storage disorders
E75.0 GM2 gangliosidosis
- E75.00 GM2 gangliosidosis, unspecified
- E75.01 Sandhoff disease
- E75.02 Tay-Sachs disease
- E75.09 Other GM2 gangliosidosis
E75.1 Other and unspecified gangliosidosis
- E75.10 Unspecified gangliosidosis
- E75.11 Mucolipidosis IV
- E75.19 Other gangliosidosis
E75.2 Other sphingolipidosis
- E75.21 Fabry (-Anderson) disease
- E75.22 Gaucher disease
- E75.23 Krabbe disease
E75.24 Niemann-Pick disease
- E75.240 Niemann-Pick disease type A
- E75.241 Niemann-Pick disease type B
- E75.242 Niemann-Pick disease type C
- E75.243 Niemann-Pick disease type D
- E75.244 Niemann-Pick disease type A/B
- E75.248 Other Niemann-Pick disease
- E75.249 Niemann-Pick disease, unspecified
- E75.25 Metachromatic leukodystrophy
- E75.26 Sulfatase deficiency
- E75.27 Pelizaeus-Merzbacher disease NEW CODE
- E75.28 Canavan disease NEW CODE
- E75.29 Other sphingolipidosis
- E75.3 Sphingolipidosis, unspecified
- E75.4 Neuronal ceroid lipofuscinosis
- E75.5 Other lipid storage disorders
- E75.6 Lipid storage disorder, unspecified
Disorders of sphingolipid metabolism and other lipid storage disorders (E75)