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Inborn Error of Metabolism is a genetic disorder in which a specific enzyme is affected, producing a metabolic block, which may have pathological consequences. E.g. PKU, Cystinuria, Pentosuria, Albinism etc.
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Patterns of Inheritance
Inheritance characteristics of an individual are determined by about 50,000 gene pairs arranged on 23 pairs of chromosomes, one of each pair coming from father & one from mother.
Autosomes
Female has 2X chromosomes (XX) & male have one X & one Y
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Patterns of Inheritance
During development of male & female reproductive cells
Meiosis occurs
Sperm
Ovum
22 Autosomes + X or Y chromosome
22 Autosomes + X chromosome
Fertilization
Autosomal Disorders
If an inherited disease is caused by a mutant (abnormal) gene situated on an autosome, the disorder is called autosomal It may be dominant or recessive
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Presence of one mutant gene is necessary for the trait to be manifested in the carrier. E.g. Hbpathies like SCA Hereditary spherocytosis & Acute intermittant porphyria
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Disease is manifested only in homozygous (presence of 2 mutant genes) E.g. Cystic fibrosis PKU Galactosemia
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Most of the sex-linked disorders are carried on Xchr Females have 2 X-chr but only one of them is active A women with one X-chr carrying a recessive disorder is unaffected clinically (Carrier) Homozygous female will however show the disorder Males have only one X-chr & this is always active. A male carrying recessive gene is therefore always affected clinically E.g. G-6-PD deficiency, Hemophilia, etc.
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Diagnosis Prevent these conditions by genetic counseling Prenatal diagnosis during subsequent pregnancies can help terminate the pregnancy or plan apt place & plan for delivery Recognition in early infancy of diseases like Galactosemia, PKU, MSUD may prevent irreversible clinical consequences or death
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Blood relatives of affected patients should screen themselves for G-6-PD deficiency, Familial hypercholesterolemia, cystinuria, Wilsons disease Following inherited disorders can be treated symptomatically congenital disaccharidase deficiency, hereditary nephrogenic diabetes insipidus Following inborn errors are almost completely harmless renal glycosuria, Gilberts disease
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