Genetic Disorders & Inborn Errors of Metabolism

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Categories of Genetic Disorders

1. 2. 3. Chromosomal disorders Monogenic disorders Multifactorial disorders

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Categories of Genetic Disorders

1. Chromosomal disorders Includes conditions in which there is excess loss of chromosomes, deletion of a part of chromosome or translocation Can be recognized by analysis of the karyotype (chromosomal pattern) of an individual E.g. Trisomy 21 (Downs Syndrome)

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Categories of Genetic Disorders

2. a. b. c. Monogenic disorders Involves single mutant gene Classified as Autosomal dominant Autosomal recessive X-linked

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Categories of Genetic Disorders

3. Multifactorial disorders Involves no. of genes Pattern of inheritance of these conditions does not conform to classic Mendelian genetic principle E.g. common adult diseases like IHD & HT
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Inborn Errors of Metabolism A Definition

A mutation in a structural gene may affect the structure of the encoded protein. If an enzyme is affected an inborn error of metabolism may result

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.

Out of 23 pairs of chromosomes

22 pairs determine characteristics of body cells

1 pair determines sex of an individual

Autosomes

Sex Chromosomes (X & Y)

Chromosome of each autosome pair are homologous

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

Diploid Cell (46 chromosomes)

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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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1. Autosomal Dominant Disorder

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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1. Autosomal Dominant Disorder

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2. Autosomal Recessive Disorder

Disease is manifested only in homozygous (presence of 2 mutant genes) E.g. Cystic fibrosis PKU Galactosemia

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1. Autosomal Recessive Disorder

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Sex Linked Disorder

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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Sex Linked Disorder

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Clinical Importance of Inborn Errors of Metabolism

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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Clinical Importance of Inborn Errors of Metabolism

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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