Gangliosidosis GM1

Introduction: Gangliosidosis GM1

Description of Gangliosidosis GM1

Gangliosidosis GM1: 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.
Source: CRISP

Gangliosidosis GM1: 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).
Source: MeSH 2007

Gangliosidosis GM1: Related Topics

These medical condition or symptom topics may be relevant to medical information for Gangliosidosis GM1:

• Gangliosidosis
• Form
• Ganglioside
• Absence
• Deficiency
• Deficiency disease
• Enzyme
• Type
• Disorder

Terms associated with Gangliosidosis GM1:

Broader terms for Gangliosidosis GM1

• enzyme deficiency
• gangliosidosis

Source - CRISP

The term Gangliosidosis GM1 can be used for:

• beta galactosidase deficiency
• Landing syndrome

Source: CRISP

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Olfactology

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