2024 ICD-10-CM Diagnosis Code E77.1

Approximate Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

• Adult fucosidosis
• Aspartylglucosaminuria
• Beta-D-mannosidosis
• Combined deficiency of sialidase AND beta galactosidase
• Dysmorphic sialidosis
• Dysmorphic sialidosis with renal involvement
• Dysmorphic sialidosis, congenital form
• Dysmorphic sialidosis, infantile form
• Dysmorphic sialidosis, juvenile form
• Fucosidosis
• Infantile fucosidosis
• Juvenile fucosidosis
• Mannosidosis
• Mannosidosis, type I
• Mannosidosis, type II
• Mucolipidosis
• Mucolipidosis
• Mucolipidosis
• Mucolipidosis
• Mucolipidosis
• Mucolipidosis
• Mucolipidosis
• Myoclonic disorder due to sialidosis
• Oligosaccharidosis
• Sialidosis
• Sialidosis type 1

Clinical Information

• Aspartylglucosaminuria

  a recessively inherited, progressive lysosomal storage disease caused by a deficiency of glycosylasparaginase activity. the lack of this enzyme activity results in the accumulation of n-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in lysosomes.

• Fucosidosis

  an autosomal recessive lysosomal storage disease caused by a deficiency of alpha-l-fucosidase activity resulting in an accumulation of fucose containing sphingolipids; glycoproteins, and mucopolysaccharides (glycosaminoglycans) in lysosomes. the infantile form (type i) features psychomotor deterioration, muscle spasticity, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, seizures, recurrent infections, and macroglossia, with death occurring in the first decade of life. juvenile fucosidosis (type ii) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. type ii survival may be through the fourth decade of life. (from menkes, textbook of child neurology, 5th ed, p87; am j med genet 1991 jan;38(1):111-31)

• Fucosidosis

  an autosomal recessive lysosomal storage disease characterized by a defective alpha-l-fucosidase. it results in accumulation of fucose in the tissues. signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances.

• Alpha-Mannosidosis

  an autosomal recessive lysosomal storage disease characterized by deficient activity of the enzyme alpha-d-mannosidase. there is a wide range of signs and symptoms including hepatomegaly, splenomegaly, hearing loss, respiratory infections, mental retardation, skeletal abnormalities, leveled nasal bridge and protruding forehead.

• Beta-Mannosidosis

  an autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzyme beta-mannosidase. it is caused by mutations in the manba gene. common features of this disorder are mental retardation, developmental delays and recurrent respiratory infections.

• Mannosidosis

  a rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-d-mannosidase or beta-mannosidase. clinical signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections.

• I-Cell Disease|Inclusion-cell Disease|Mucolipidosis Type II

  an inherited lysosomal storage disease characterized by the presence of dense intracytoplasmic inclusions in mesenchymal cells, especially fibroblasts. signs and symptoms include developmental delay, psychomotor deterioration, and growth failure.

• Mucolipidosis

  a group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.

• Mucolipidosis Type III Gamma|Mucolipidosis III Gamma

  an autosomal recessive condition caused by mutation(s) in the gnptag gene, encoding n-acetylglucosamine-1-phosphotransferase subunit gamma. it is characterized by a slowing of the growth rate in childhood, joint stiffness, mild cognitive impairment, and cardiorespiratory insufficiency.

• Mucolipidosis Type IIIA

  a lysosomal storage disease characterized by multiple bone formation abnormalities, progressive joint stiffness, developmental abnormalities, hearing loss, hepatosplenomegaly, increased acne, enlarged tongue, and cornea clouding due to accumulation of lipid substances.

• Mucolipidosis Type IV|Mucolipidosis IV

  an autosomal recessive lysosomal storage disease caused by mutations in the mcoln1 gene. it is characterized by psychomotor developmental delays and ophthalmologic abnormalities.

• Neuraminidase Deficiency|Mucolipidosis I|Sialidosis Type II

  an autosomal recessive inherited lysosomal storage disease characterized by excessive intracellular accumulation and urinary excretion of sialic acid associated with neuraminidase deficiency.

Convert E77.1 to ICD-9-CM

• ICD-9-CM Code: 271.8 - Dis carbohydr metab NEC
  Approximate Flag - The approximate mapping means there is not an exact match between the ICD-10 and ICD-9 codes and the mapped code is not a precise representation of the original code.
• ICD-9-CM Code: 272.7 - Lipidoses
  Approximate Flag - The approximate mapping means there is not an exact match between the ICD-10 and ICD-9 codes and the mapped code is not a precise representation of the original code.

Patient Education

Carbohydrate Metabolism Disorders

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process.

Carbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly. This causes a harmful amount of sugar to build up in your body. That can lead to health problems, some of which can be serious. Some of the disorders are fatal.

These disorders are inherited. Newborn babies get screened for many of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.

Treatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms.

[Learn More in MedlinePlus]

Aspartylglucosaminuria

Aspartylglucosaminuria is a condition that primarily affects mental functioning and movement. This conditions worsens over time. Infants with aspartylglucosaminuria appear healthy at birth, and development is typically normal throughout early childhood. Around the age of 2 or 3, affected children usually begin to have delayed speech, mild intellectual disability, and problems coordinating movements. Other features that develop in childhood include respiratory infections, a protrusion of organs through gaps in muscles (hernia), and a growth spurt resulting in a large head size (macrocephaly).

Intellectual disability and movement problems worsen in adolescence. Most people with this disorder lose much of the speech they have learned, and affected adults usually have only a few words in their vocabulary. Adults with aspartylglucosaminuria often have psychological disorders and may develop seizures.

People with aspartylglucosaminuria may also have bones that become progressively weak and prone to fracture (osteoporosis), an unusually large range of joint movement (hypermobility), and loose skin. Affected individuals tend to have a characteristic facial appearance that includes widely spaced eyes (ocular hypertelorism), small ears, and full lips. The nose is short and broad and the face is usually square-shaped. They often have poor oral health, including infections and gum disease (gingivitis). Children with this condition may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short with a small head size (microcephaly). Individuals with aspartylglucosaminuria usually survive into mid-adulthood.

[Learn More in MedlinePlus]

Fucosidosis

Fucosidosis is a condition that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. People with this condition often have delayed development of motor skills such as walking; the skills they do acquire deteriorate over time. Additional signs and symptoms of fucosidosis include impaired growth; abnormal bone development (dysostosis multiplex); seizures; abnormal muscle stiffness (spasticity); clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas); distinctive facial features that are often described as "coarse"; recurrent respiratory infections; and abnormally large abdominal organs (visceromegaly).

In severe cases, symptoms typically appear in infancy, and affected individuals usually live into late childhood. In milder cases, symptoms begin at age 1 or 2, and affected individuals tend to survive into mid-adulthood.

In the past, researchers described two types of this condition based on symptoms and age of onset, but current opinion is that the two types are actually a single disorder with signs and symptoms that range in severity.

[Learn More in MedlinePlus]

Code History

• FY 2024 - No Change, effective from 10/1/2023 through 9/30/2024
• FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
• FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
• FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
• FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
• FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
• FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
• FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
• FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016. This was the first year ICD-10-CM was implemented into the HIPAA code set.