TY  - CHAP
M1  - Book, Section
TI  - SC4MOL Deficiency
A1  - He, Miao
A1  - Smith, Laurie D.
A1  - Vockley, Jerry
A2  - Valle, David L.
A2  - Antonarakis, Stylianos
A2  - Ballabio, Andrea
A2  - Beaudet, Arthur L.
A2  - Mitchell, Grant A.
Y1  - 2019
N1  - 10.1036/ommbid.424
T2  - The Online Metabolic and Molecular Bases of Inherited Disease
AB  - Two  patients  from  different  families  have  recently  been  described  as  having  a  deficiency  of  sterol-C4-methyl  oxidase,  encoded  by  the  SC4MOL  gene.  Both  patients  presented  with  microcephaly,  congenital  cataracts,  and  growth  delay  in  infancy.  The  first  patient  (a  female),  who  is  now  20  years  old,  has  had  severe,  diffuse  psoriasiform  dermatitis  everywhere  except  her  palms  since  she  was  6.  The  second  patient,  also  female,  is  now  5  and  has  just  started  to  develop  dry  skin  and  hair  changes.  Quantitative  sterol  analysis  of  both  patients’  plasma  showed  marked  elevation  of  4α-methylsterols  and  4,4′-dimethylsterols,  indicating  a  deficiency  in  the  first  step  of  sterol-C4  demethylation  in  cholesterol  biosynthesis.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
M3  - doi: 10.1036/ommbid.424
Y2  - 2024/04/19
UR  - ommbid.mhmedical.com/content.aspx?aid=1184072416
ER  -