Alacrimia-choreoathetosis-liver dysfunction syndrome

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Alacrimia-choreoathetosis-liver dysfunction syndrome

Synonyms: NGLY1 deficiency | NGLY1-CDDG

A rare genetic inborn error of metabolism disorder characterized by global developmental delay hypotonia choreoathetosis hypo-/alacrimia and liver dysfunction which manifests with elevated liver transaminases and hepatocyte cytoplasmic storage material or vacuolization on liver biopsy. Additional features reported include acquired microcephaly hypo-/areflexia seizures peripheral neuropathy intellectual and language/speech disability additional ocular anomalies and EEG and brain imaging abnomalities.

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 Data version December 2023

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Advocacy Organizations


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.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.