| SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (SPDRS) | |
| GM3 SYNTHASE DEFICIENCY; ST3GAL5-CDG | |
|
609056
OMIM = Online Mendelian Inheritance of Men | |
|
370938 | |
| Lactosylceramide alpha-2,3-sialyltransferase | |
rare autosomal recessive mutation in the ST3GAL5 gene | |
| Laboratory findings | GM3-Ganglioside dec (plasma) L-Lactic acid normal/inc (serum) Lactosylceramide inc (plasma) |
| Symptoms | abnormal movement anorexia ataxia behavior, self-mutilating or destructive blindness, visual loss, visual impairment cerebral atrophy developmental delay encephalopathy epilepsy failure to thrive feeding difficulties, poor feeding hearing defect, deafness hyperpigmentation hyporeflexia hypotonia intellectual disability/intellectual developmental disorder irritability microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, childhood onset, infancy onset, neonatal optic atrophy seizures vomiting |