79
avoided by using low concentration of doses [45]. Hydrocortisone can be used for
treatment in adults but synthetic glucocorticoids are more efficient.
High potency drugs including dexamethasone and prednisolone show some side
effects like sleeplessness, mild mood change, fluid retention, and weight gain [46].
Patients suffering from classic 21OH deficiency should be treated by stress dose of
steroid in pregnancy and delivery cases [47]. Women treated with glucocorticoids
have less ratio of pregnancy loss as compared to those which are suffering from
non-classic 21OH deficiency. Due to this reason, glucocorticoids proved useful during gestation and pregnancy period [48]. Men suffering from testicular adrenal rest
tumors (TARTs) needed 1 dose of glucocorticoid that helps in suppression of adrenocorticotropic hormone (ACTH) [49].
Mineralocorticoid Replacement
For the treatment of patients with 21OH deficiency, mineralocorticoid replacement
is essential. It is dire need for the infants which are associated with this disease
severely that they should be treated with high doses of mineralocorticoid and supplements should be given in addition to sodium chloride. Level of mineralocorticoid
is not maintained in adults because there is over 21 hydroxylation of progesterone
released from adrenal [50]. The level of ACTH and vasopressin decreases in
response to recovery of normal amount of blood and mineralocorticoid replacement
which leads to decrease in the required concentration of glucocorticoid essential for
the optimum working of androgen secretion [51]. Fludrocortisone doses are used to
maintain the blood pressure while sitting and standing as well as to maintain the
normal range of plasma renin activity [52].
Conclusion
Nosology for IMDs provides an overview for recognized IMDs grouped based upon
their molecular genetics and etiology. In last few decades, improved technologies
for sample analysis and gene sequencing have accelerated the research in the field
of IMDs. Our understanding of the genetic basis, pathophysiology, management,
and improved detection methods has increased substantially in recent years. Many
diseases are well characterized at their gene levels and provide potential treatment
against these disorders. Significant advances in enzyme replacement therapy, gene
therapy, and stem cell technology have resulted in increased survival rate. Although
there are many treatments available for neurological conditions but research is in
continuous progress. It is encouraging that studies are still required to understand
and treatment for these diseases. Further genetic and biochemical studies may provide more risk factors that are involved in causing IMDs. Frequent update and accurate reviewing are required for deeper insight of a disease.
Conflicts of Interest There is no conflict between the authors.
4 Inherited Metabolic Disorders: A Current Status
avoided by using low concentration of doses [45]. Hydrocortisone can be used for
treatment in adults but synthetic glucocorticoids are more efficient.
High potency drugs including dexamethasone and prednisolone show some side
effects like sleeplessness, mild mood change, fluid retention, and weight gain [46].
Patients suffering from classic 21OH deficiency should be treated by stress dose of
steroid in pregnancy and delivery cases [47]. Women treated with glucocorticoids
have less ratio of pregnancy loss as compared to those which are suffering from
non-classic 21OH deficiency. Due to this reason, glucocorticoids proved useful during gestation and pregnancy period [48]. Men suffering from testicular adrenal rest
tumors (TARTs) needed 1 dose of glucocorticoid that helps in suppression of adrenocorticotropic hormone (ACTH) [49].
Mineralocorticoid Replacement
For the treatment of patients with 21OH deficiency, mineralocorticoid replacement
is essential. It is dire need for the infants which are associated with this disease
severely that they should be treated with high doses of mineralocorticoid and supplements should be given in addition to sodium chloride. Level of mineralocorticoid
is not maintained in adults because there is over 21 hydroxylation of progesterone
released from adrenal [50]. The level of ACTH and vasopressin decreases in
response to recovery of normal amount of blood and mineralocorticoid replacement
which leads to decrease in the required concentration of glucocorticoid essential for
the optimum working of androgen secretion [51]. Fludrocortisone doses are used to
maintain the blood pressure while sitting and standing as well as to maintain the
normal range of plasma renin activity [52].
Conclusion
Nosology for IMDs provides an overview for recognized IMDs grouped based upon
their molecular genetics and etiology. In last few decades, improved technologies
for sample analysis and gene sequencing have accelerated the research in the field
of IMDs. Our understanding of the genetic basis, pathophysiology, management,
and improved detection methods has increased substantially in recent years. Many
diseases are well characterized at their gene levels and provide potential treatment
against these disorders. Significant advances in enzyme replacement therapy, gene
therapy, and stem cell technology have resulted in increased survival rate. Although
there are many treatments available for neurological conditions but research is in
continuous progress. It is encouraging that studies are still required to understand
and treatment for these diseases. Further genetic and biochemical studies may provide more risk factors that are involved in causing IMDs. Frequent update and accurate reviewing are required for deeper insight of a disease.
Conflicts of Interest There is no conflict between the authors.
4 Inherited Metabolic Disorders: A Current Status