E75.19

Other gangliosidosis

A ganglioside biosynthesis disorder caused by n-acetylneuraminyl)-galactosylglucosylceramide n-acetyl transferase e.c. 2.4.192) deficiency with excessive accumulation of ganglioside gm3 in the liver and brain tissue and absence of higher ganglioside homologs. Clinical features include limpness, retarded psychomotor development, coarsening of facial features, macroglossia, gingival hypertrophy, hepatosplenomegaly, inguinal hernia, and stubby hands and feet. Most patients die in infancy.

A ganglioside storage disorder due to beta-galactosidase ec 3.2.1.23) deficiency and abnormal accumulation of gm1 ganglioside in neurons and in hepatic, splenic and other histiocytes and in renal glomerular epithelium due. The symptoms appear shortly after birth; they include retarded psychomotor development, failure to thrive, startle reaction to sounds, feeding difficulty, hepatosplenomegaly, hurler gargoyle-like) facies coarse facial features, macrocephaly, broad nose, frontal bossing, long philtrum, prominent maxilla, and macroglossia), bone defects similar to those seen in hurler syndrome mainly dysostosis multiplex and long bone and vertebral anomalies), and other abnormalities. Severe cerebral degeneration follows with death in the first two years of life usually due to bronchopneumonia. The affected infants are often blind, deaf, and quadriplegic.

An autosomal recessive lysosomal storage disease characterized by deficiency of the enzyme acid beta-galactosidase, resulting in the accumulation of acid lipids in the nervous system. Signs and symptoms include neurologic disturbances, muscle atrophy, dystonia, eye abnormalities, and formation of angiokeratomas.

An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of beta-galactosidase. It is characterized by intralysosomal accumulation of g m1) ganglioside and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by muscle hypotonia, poor psychomotor development, hirsutism, hepatosplenomegaly, and facial abnormalities. The juvenile form features hyperacusis; seizures; and psychomotor retardation. The adult form features progressive dementia; ataxia; and muscle spasticity. from menkes, textbook of child neurology, 5th ed, pp96-7)

Form of gangliosidosis characterized by accumulation of g m1) ganglioside and oligosaccharides in lysosomes caused by an absence or severe deficiency of the enzyme beta-galactosidase type a1); three phenotypes of this disorder are infantile generalized), juvenile, and adult; the infantile form is characterized by skeletal abnormalities, hypotonia, poor psychomotor development, hirsutism, hepatosplenomegaly, and facial abnormalities; the juvenile form features hyperacusis, seizures, and psychomotor retardation; the adult form features progressive intellectual deterioration, involuntary movements, ataxia, and spasticity.

E75.19 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

This is the American ICD-10-CM version of E75.19 – other international versions of ICD-10 E75.19 may differ.