RT Book, Section
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.
SR Print(0)
ID 1184072416
T1 SC4MOL Deficiency
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1184072416
RD 2024/04/18
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.