1. Home
  2. ICD-10-CM Codes List
  3. E00–E89
  4. E70-E88
  5. Disorders of sphingolipid metabolism and other lipid storage disorders (E75)

Disorders of sphingolipid metabolism and other lipid storage disorders (E75)

Disorders of sphingolipid metabolism and other lipid storage disorders (ICD-10 code E75) comprise a group of inherited metabolic conditions characterized by abnormal storage and processing of lipids in cells. These codes are used to identify and classify specific diseases such as gangliosidoses, sphingolipidoses, and various lipid storage diseases.

This ICD-10 section includes precise codes for conditions like GM2 gangliosidosis (E75.0), which covers subtypes such as Tay-Sachs disease (E75.02) and Sandhoff disease (E75.01), both also known by their enzyme deficiency names. For example, Tay-Sachs disease is synonymous with "B variant hexosaminidase A deficiency." The section also addresses other gangliosidoses, including mucolipidosis IV (E75.11), and sphingolipidoses like Fabry disease (E75.21) and Gaucher disease (E75.22), each with unique metabolic and neurological manifestations. Niemann-Pick disease types A, B, C, and D are distinctly coded under E75.24 subcategories, reflecting their variants and associated lipid accumulations.

Other lipid storage disorders (E75.5) and unspecified forms (E75.6) cover a range of rare metabolic conditions involving improper lipid catabolism and storage. Codes also exist for leukodystrophies such as metachromatic leukodystrophy (E75.25) and related sulfatase deficiencies. Using these ICD-10 codes accurately identifies specific lipid metabolic disorders, facilitating proper diagnosis, treatment planning, and disease classification in clinical and medical coding settings.

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.

Clinical Terms

The following clinical terms provide additional context, helping users better understand the clinical background and common associations for each diagnosis listed in this section. Including related terms alongside ICD-10-CM codes supports coders, billers, and healthcare professionals in improving accuracy, enhancing documentation, and facilitating research or patient education.

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.