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Summary
DESMOSTEROLOSIS
DESMOSTEROL-TO-CHOLESTEROL ENZYME, DCE
602398
OMIM = Online Medalian Inheritance of Men
35107
1p32.3
very rare
autosomal recessive
mutation in the DHCR24 gene
symptoms
ambiguous genitalia
arthrogryposis
cardiac involvement, cardiac defects
cleft palate
clubfoot
contractures, joints
corpus callosum, agenesis/hypoplasia
dysmorphism
early death
failure to thrive
hydrocephalus
hypertonia, spasticity
intellectual disability/intellectual developmental disorder (ID/ IDD)
macrocephaly (large calvaria, >2 SD for age)
mental retardation
microcephaly (<2 SD for age)
motor retardation
nystagmus
onset, fetus
onset, neonatal
seizures
small chin or micrognathia
speech development, delayed, abnormal
strabismus
laboratory finding
Desmosterol increasedplasma
MRI, brain, abnormalities -
Desmosterol increasedtissue
Literature
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
Miousse IR,et al.Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolismJ Pediatr1544551-5562009
Yamada K,et al.Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN ReductasesJ Biol Chem. 2015 Dec 4290(49):29155-66.2904929155-662015
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
Coelho D,et al.Gene identification for the cblD defect of vitamin B12 metabolismN Engl J Med358141454-14642008