Alacrima - choreoathetosis - hepatopathy, syndrome
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(NGLY1 deficiency, NGLY1-CDDG)
Very rare: 1/1.106. Autosomal recessive transmission of a pathogenic mutation of the NGLY1 gene (3p24.2) coding for N-glycanase. This mutation causes a dysfunction of the deglycosylation of the proteins.
The NGLY1 gene is also involved in the regulation of the mitochondrial activity by NFE2L1 and in the regulation of aquaporins.
Clinical presentation:
- developmental retardation, hypotonia
- alacrima (or shortage of tears): conjunctivitis, corneal abscess, corneal opacities
- involuntary movements
- abnormal eye movements
- treatment-resistant epilepsy
- microcephaly
- small hands and feet
- high levels of hepatic enzymes, sometimes hyperlactatemia; liver biopsy shows accumulation of vacuoles in the cytoplasm
Anesthetic implications:
refractory epilepsy, eye protection; neurologists recommend taking the same precautions as in case of mitochondrial cytopathy (see this term)
References :
- Lam C, Ferreira C, Krasnewich D, Toro C, Latham L et al.
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Genet Med 2017; 19: 160-8.
Updated: August 2020