| CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG (NGLY1-CDDG) | |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iv, FORMERLY (CDG1V) | |
|
615273
OMIM = Online Mendelian Inheritance of Men | |
|
404454 | |
| Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase | |
very rare autosomal recessive mutation in the NGLY1 gene | |
| Laboratory findings | alpha-Fetoprotein normal/inc (serum) Aspartylglucosamine inc (urine) Cholesterol inc (serum) L-Lactic acid normal/inc (blood) Transaminases (ASAT/ALAT) normal/inc (serum) |
| Symptoms | abnormal movement alacrima corneal erosion developmental delay dysmorphism eye movements, abnormal feeding difficulties, poor feeding hypolacrimia hyporeflexia intellectual disability/intellectual developmental disorder liver involvement or dysfunction peripheral neuropathy scoliosis seizures strabismus tremor or twitching constipation epilepsy hypotonia joint hypermobilty, dislocations, laxity microcephaly (<2 SD for age) movement disorder, hyperkinetic muscle atrophy myoclonus onset, infancy optic atrophy speech development, delayed, abnormal |