E75.01

Clinical Information

• An autosomal recessive inherited lysosomal storage disorder caused by mutations in the hexb gene. It is characterized by deficiency of the enzyme hexosaminidase, resulting in the accumulation of gangiosides in the central nervous system and other body tissues. Signs and symptoms include progressive motor and mental deterioration, early blindness, macrocephaly, seizures, and hepatosplenomegaly.

• 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.

• Autosomal inherited disease caused by deficiency of the enzymes hexosaminidase a and b which leads to an accumulation of gm2 ganglioside and the sphingolipid globoside in neurons and other organs; clinical manifestations resemble tay-sachs disease.

Details

• E75.01 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E75.01 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E75.01 – other international versions of ICD-10 E75.01 may differ.