Inborn Error of Metabolism Congenital Metabolic Diseases Inherited Metabolic Diseases

Inborn Errors of Metabolism Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products)

Inborn Errors of Metabolism In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds

Inborn Error of Carbohydrate Metabolism

FAVISM Favism is an inborn error of metabolism caused by congenital deficiency of G-6-PD enzyme due to DNA mutation of the G-6-PD gene Favism is a genetically inherited disease characterized by increased fragility of RBCs and hemolysis that occurs after intake of fava beans or after the intake of some drugs (e.g. anti-malarial drugs)

GALACTOSEMIA Galactosemia is a congenital disease caused by deficiency of galactokinase; galactose-1-P uridyl transferase or UDP-Gal 4-epimerase. Galactosemia is characterized by : 1)- Galactosemia: increased blood galactose 2)- Galactosuria: excretion of large amounts of galactose in urine. 3)- Cataract : Opacity in eye lens that looks white in color 4)- Mental retardation 5)- Liver cell failure

Essential Fructosuria Inborn error of fructose metabolism caused by deficiency of Fructokinase in liver Fructose is not converted to glucose in liver, its level is increased in blood (Fructosemia) and excreted in large amount in urine (Fructosuria) It is a harmless condition

Hereditary Fructose Intolerance Inborn error of fructose metabolism caused by congenital deficiency of Aldolase B in liver cells - Ingestion of fructose or sucrose by these patients leads to fasting hypoglycemia that might lead to coma and even death. Liver cell failure So, Hereditary fructose intolerance is more dangerous than essential fructosuria

Von Gierke’s disease Von Gierke’s disease (Type-I- GLYCOGEN STORAGE DISEASE (GSD): Congenital disease due to deficiency of glucose-6-phosphatase in liver Characterized by: Hepatomegaly Fasting hypoglycemia Hyperlipemia Hyperuricemia (Gout

Inborn Error of Lipid Metabolism

Refsum disease Deficiency of the enzymes of a-oxidation leads to accumulation of phytanic acid in the brain, a disease known as Refsum disease (phytanic acid storage disease) It is characterized by mental retardation, deafness, & blindness at young age Refsum disease is a genetic disease common in Jewish

Inborn Error of Protein Metabolism

ALBINISM Albinism (from Latin albus, "white") is a hypopigmentary congenital disorder. It is characterized by a partial or total lack of melanin pigment in the eyes, skin and hair. Albinism results from inheritance of recessive alleles.

What Causes Albinism Albinism is hereditary It is due to deficiency of tyrosinase enzyme There is genetic mutations which lead to changes in melanin production in the body.

Albinistic girl from Papua New Guinea

An albino Wistar rat, a strain commonly used for both biomedical and basic research

Albino cobra. It retains some yellow and red pigment

The person affected by albinism is called: albino albinistic albinoid albinic

PHENYLKETONURIA (PKU)

Phenylketonuria (PKU) Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylketones, which are detected in the urine.

PKU PKU cause problems with brain development, leading to progressive mental retardation and seizures. There is no cure. Damage done is irreversible so early detection is crucial. However, PKU is one of the few genetic diseases that can be controlled by diet. A diet low in phenylalanine and high in tyrosine can be a very effective treatment.

The blood of a two week-old infant is collected for a Phenylketonuria, or PKU, screening

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