Clinical Terms for Disord of sphingolipid metab and oth lipid storage disorders (E75)
GM2 Gangliosidosis-. A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
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.
Tay-Sachs Disease-. An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
Gangliosidoses, GM2-. A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
Mucolipidoses-. A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently.
Fabry Disease-. An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
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.
Krabbe Disease-. An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.
Niemann-Pick Diseases-. A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.
Leukodystrophy, Metachromatic-. An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.
Sphingolipidosis-. A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
Neuronal Ceroid-Lipofuscinoses-. A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
Type 1 Excludes 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–E90)
Metabolic disorders (E70-E88)
- E75 - Disord of sphingolipid metab and oth lipid storage disorders NON-BILLABLE CODE
- E75.0 - GM2 gangliosidosis NON-BILLABLE CODE
- E75.00 - GM2 gangliosidosis, unspecified BILLABLE CODE
- E75.01 - Sandhoff disease BILLABLE CODE
- E75.02 - Tay-Sachs disease BILLABLE CODE
- E75.09 - Other GM2 gangliosidosis BILLABLE CODE
- E75.1 - Other and unspecified gangliosidosis NON-BILLABLE CODE
- E75.10 - Unspecified gangliosidosis BILLABLE CODE
- E75.11 - Mucolipidosis IV BILLABLE CODE
- E75.19 - Other gangliosidosis BILLABLE CODE
- E75.2 - Other sphingolipidosis NON-BILLABLE CODE
- E75.21 - Fabry (-Anderson) disease BILLABLE CODE
- E75.22 - Gaucher disease BILLABLE CODE
- E75.23 - Krabbe disease BILLABLE CODE
- E75.24 - Niemann-Pick disease NON-BILLABLE CODE
- E75.240 - Niemann-Pick disease type A BILLABLE CODE
- E75.241 - Niemann-Pick disease type B BILLABLE CODE
- E75.242 - Niemann-Pick disease type C BILLABLE CODE
- E75.243 - Niemann-Pick disease type D BILLABLE CODE
- E75.248 - Other Niemann-Pick disease BILLABLE CODE
- E75.249 - Niemann-Pick disease, unspecified BILLABLE CODE
- E75.25 - Metachromatic leukodystrophy BILLABLE CODE
- E75.26 - Sulfatase deficiency BILLABLE CODE
- E75.29 - Other sphingolipidosis BILLABLE CODE
- E75.3 - Sphingolipidosis, unspecified BILLABLE CODE
- E75.4 - Neuronal ceroid lipofuscinosis BILLABLE CODE
- E75.5 - Other lipid storage disorders BILLABLE CODE
- E75.6 - Lipid storage disorder, unspecified BILLABLE CODE
Disord of sphingolipid metab and oth lipid storage disorders (E75)