77
chloral-hydrates [37]. Latest therapeutic measures include botulinum toxin A that
influence CNS and PNS, gabapentin and dopamine therapy [38].
Disorders of Steroids Metabolism
Congenital Adrenal Hyperplasia (CAH)
There are a number of disorders such as CAH which are inherited from patients due
to enzymatic dis-functioning involved in the biosynthesis of cortisol. Adrenal cortex
hyperplasia results when the level of ACTH and corticotrophin releasing hormone
elevated as a negative feedback of pituitary gland and hypothalamus due to over
production of cortisol. The disorders resulting from enzymatic imbalance or lower
production may include stoppage of an individual pathway or multiple activities. It
is recorded that almost 90% of the cases of CAH are caused by the lower production
of steroid 21 hydroxylase [39]. On the basis of cortisol there are two forms of 21-OH
deficiency, namely classic and non-classic. Depending upon their bad effect in
infants to cause spontaneous hypotensive crisis 21 OHD is also divided into groups
such as simple virilizing and salt wasting [40].
Genetics
Hyperplasia includes all those types which are autosomal recessive and monogenetic disorders but lethal. In most of the cases almost all the patients have altered
sequence of alleles encoding for a specific gene product. Medically, those alleles are
preferred which give more relationship among genotype-phenotype and functional
enzymes [41]. The synthesis of steroids from cholesterol occurs in adrenal glands in
many steps catalyzed by enzymes. The process of steroidogenesis is disturbed due
to deficiency of many enzymes leading to congenital adrenal hyperplasia of many
types. There is another pathway which is termed as androgen biosynthesis that
occurs in gonads and it may also lead to pathophysiology of congenital adrenal
hyperplasia. Medical symptoms of congenital adrenal hyperplasia are found to be
more closely related to disability. Their clinical findings are shown in Table 4.5.
Treatment
Glucocorticoid Replacement
Glucocorticoid replacement is required in patients associated with 21OHD chronic
disease. Hydrocortisone is used for the children before their complete growth
because they act in a short period of time. It is not clear yet that their specific concentration in a day has significant benefit or not [44]. Growth suppression can be
4 Inherited Metabolic Disorders: A Current Status
chloral-hydrates [37]. Latest therapeutic measures include botulinum toxin A that
influence CNS and PNS, gabapentin and dopamine therapy [38].
Disorders of Steroids Metabolism
Congenital Adrenal Hyperplasia (CAH)
There are a number of disorders such as CAH which are inherited from patients due
to enzymatic dis-functioning involved in the biosynthesis of cortisol. Adrenal cortex
hyperplasia results when the level of ACTH and corticotrophin releasing hormone
elevated as a negative feedback of pituitary gland and hypothalamus due to over
production of cortisol. The disorders resulting from enzymatic imbalance or lower
production may include stoppage of an individual pathway or multiple activities. It
is recorded that almost 90% of the cases of CAH are caused by the lower production
of steroid 21 hydroxylase [39]. On the basis of cortisol there are two forms of 21-OH
deficiency, namely classic and non-classic. Depending upon their bad effect in
infants to cause spontaneous hypotensive crisis 21 OHD is also divided into groups
such as simple virilizing and salt wasting [40].
Genetics
Hyperplasia includes all those types which are autosomal recessive and monogenetic disorders but lethal. In most of the cases almost all the patients have altered
sequence of alleles encoding for a specific gene product. Medically, those alleles are
preferred which give more relationship among genotype-phenotype and functional
enzymes [41]. The synthesis of steroids from cholesterol occurs in adrenal glands in
many steps catalyzed by enzymes. The process of steroidogenesis is disturbed due
to deficiency of many enzymes leading to congenital adrenal hyperplasia of many
types. There is another pathway which is termed as androgen biosynthesis that
occurs in gonads and it may also lead to pathophysiology of congenital adrenal
hyperplasia. Medical symptoms of congenital adrenal hyperplasia are found to be
more closely related to disability. Their clinical findings are shown in Table 4.5.
Treatment
Glucocorticoid Replacement
Glucocorticoid replacement is required in patients associated with 21OHD chronic
disease. Hydrocortisone is used for the children before their complete growth
because they act in a short period of time. It is not clear yet that their specific concentration in a day has significant benefit or not [44]. Growth suppression can be
4 Inherited Metabolic Disorders: A Current Status