GM3 synthase deficiency

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GM3 synthase deficiency

Synonyms: ST3GAL5-CDG

GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability poor feeding failure to thrive and early-onset refractory epilepsy followed by postnatal growth impairment severe developmental delay or developmental regression profound intellectual disability deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging) choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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GM3 synthase deficiency?

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Advocacy Organizations

CDG CARE

Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

Clinical Trials

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