TY - CHAP
T1 - Disorders of isoprenoid/cholesterol synthesis
AU - Waterham, Hans R.
AU - Clayton, Peter T.
PY - 2022/6/24
Y1 - 2022/6/24
N2 - Ten different enzyme defects in the isoprenoid/cholesterol synthetic pathway have been linked with different genetic disorders. Of these, mevalonate kinase deficiency affects the synthesis of all isoprenoids, is associated characteristically with recurrent episodes of high fever and inflammation, and may present with congenital anomalies. Most of the remaining enzyme defects affect the synthesis of cholesterol only. Patients with these defects may present with various multiple congenital and morphogenic anomalies, including internal organ, skeletal and/or skin abnormalities, and/or a marked delay in psychomotor development.
AB - Ten different enzyme defects in the isoprenoid/cholesterol synthetic pathway have been linked with different genetic disorders. Of these, mevalonate kinase deficiency affects the synthesis of all isoprenoids, is associated characteristically with recurrent episodes of high fever and inflammation, and may present with congenital anomalies. Most of the remaining enzyme defects affect the synthesis of cholesterol only. Patients with these defects may present with various multiple congenital and morphogenic anomalies, including internal organ, skeletal and/or skin abnormalities, and/or a marked delay in psychomotor development.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85157983996&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/37124333
U2 - https://doi.org/10.1007/978-3-662-63123-2_37
DO - https://doi.org/10.1007/978-3-662-63123-2_37
M3 - Chapter
C2 - 37124333
SN - 9783662631225
T3 - Inborn Metabolic Diseases: Diagnosis and Treatment
SP - 693
EP - 703
BT - Inborn Metabolic Diseases: Diagnosis and Treatment
PB - Springer Berlin Heidelberg
ER -