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Summary
SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME SPDRS
GM3 SYNTHASE DEFICIENCY ST3GAL5-CDG
609056
OMIM = Online Medalian Inheritance of Men
370938
2p11.2
rare
autosomal recessive
mutation in the ST3GAL5 gene
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 (ID/ IDD)
irritability
microcephaly (<2 SD for age)
onset, childhood
onset, infancy
onset, neonatal
optic atrophy
seizures
vomiting
laboratory finding
L-Lactic acid mmol/lserum
MRI, brain, abnormalities -
GM3-Ganglioside -Ág/lplasma
Lactosylceramide increasedplasma
Literature
Inoue KCellular Pathology of Pelizaeus-Merzbacher Disease Involving Chaperones Associated with Endoplasmic Reticulum StressFront Mol Biosci4072017
Nevin ZS,et al.Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived OligodendrocytesAm J Hum Genet1004617-6342017
Osorio MJ,et al.Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease.Stem Cells352311-3152017
Williams TB,et al.Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiencyMol Genet Metab1061104-1072012
Pavlidou E,et al.A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.Brain Dev393271-2742017
Manea EM,et al.Pearson syndrome in the neonatal period: two case reports and review of the literatureJ Pediatr Hematol Oncol3112947-9512009