Template:Defects of cholesterol and steroid metabolism
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v
t
e
Inborn error
of
steroid metabolism
Mevalonate pathway
HMG-CoA lyase deficiency
Hyper-IgD syndrome
Mevalonate kinase deficiency
To
cholesterol
7-Dehydrocholesterol
path:
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
CHILD syndrome
Conradi-Hünermann syndrome
Lathosterolosis
Smith-Lemli-Opitz syndrome
desmosterol
path:
Desmosterolosis
Steroids
Corticosteroid
(including
CAH
)
aldosterone
:
Glucocorticoid remediable aldosteronism
cortisol
/
cortisone
:
CAH 17α hydroxylase
CAH 11β hydroxylase
both:
CAH 3β dehydrogenase
CAH 21α hydroxylase
Apparent mineralocorticoid excess syndrome/11β dehydrogenase
Sex steroid
To
androgens
17-beta-hydroxysteroid dehydrogenase deficiency
5-alpha-reductase deficiency
Pseudovaginal perineoscrotal hypospadias
To
estrogens
Aromatase deficiency
Aromatase excess syndrome
Other
X-linked ichthyosis
Antley-Bixler syndrome
Template:Metabolic navs
v
t
e
Index of
hormones
Description
Glands
Hormones
thyroid
intermediates
metabolism
mineralocorticoids
Physiology
Development
Disease
Diabetes
Congenital
Neoplasms and cancer
Treatment
Procedures
Drugs
calcium balance
corticosteroids
oral hypoglycemics
pituitary and hypothalamic
thyroid
ru:Шаблон:Дефекты холестеринового и стероидного метаболизма
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Cholesterol and steroid metabolism disorders
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