inborn errors of carbohydrate metabolism

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INBORN ERRORS OF CARBOHYDRATE METABOLISM

INBORN ERRORS OF CARBOHYDRATE METABOLISMDone By, Ekta-1311113 Komal-1311118 Priyanka Kumari-1311130 Sakina-1311135 Saloni-1311137

GALACTOSEMIA

A disorder that affects how the body processes a simple sugar called galactic.It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas.The signs and symptoms of galactosemia result from an inability to use galactose to produce energy.

TYPESClassic galactosemia, also known as type I, is the most common and most severe form of the condition. Galactosemia type II (also called galactokinase deficiency) Type III (also called galactose epimerase deficiency)

COMPLICATIONS WITH INFANTSIf infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth.

SYMPTOMSLack of energy (lethargy), and A failure to gainweight Yellowing of the skin and whites of the eyes (jaundice), liver damage, and bleeding. Other serious complications of this condition can includeOverwhelming bacterial infections (sepsis) and shock., clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may experience reproductive problems caused by ovarian failure.

Galactosemia type II causes fewer medical problems than the classic type. Affected infants develop cataracts, but otherwise experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe .Includes cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.

HOW IS GALACTOSEMIA DIAGNOSED?

Galactosemia can be diagnosed through blood tests. Affected infants who ingest galactose will excrete it in large quantities in their urine where it can also be detected.

TREATMENTElimination of galactose from the diet.The red blood cell levels of galactose or its metabolites (galactose-1-phosphate) may be used as a monitor to gauge the adherence to the diet and restriction of galactose.It is also recommended that mothers of affected infants be placed on a galactose-free diet during subsequent pregnancies

GLUCOSE -6-PHOSPHATE DEHYDROGENASE DEFICIENCY

A hereditary abnormality in the activity of an erythrocyte (red blood cell) called enzyme- glucose-6-phosphate dehydrogenase . The enzyme deficiency may provoke the sudden destruction of red blood cells and leads to haemolytic anemia with jaundice following the intake of fava beans, certain legumes and various.The defect is sex-linked, transmitted from mother to the child.

SYMPTOMS

Sudden rise of body temperature and yellow colouring of skin and mucous membrane.Dark yellow-orange urine.Pallor, fatigue, general deterioration of physical conditions.Heavy, fast breathing.Weak, rapid pulse.

TREATMENTAvoid the prohibited drugs and foodstuffs. In case of a haemolytic crisis, the most effective therapy is blood transfusion.

GLYCOGEN STORAGE DISEASE

A group of inherited diseases that result from a lack of, or abnormal functioning of, one of the proteins (enzymes) involved in the conversion of glucose to glycogen or the breakdown of glycogen back into glucose. There are a number of different glycogen storage disorders.

TYPES OF GLYCOGEN STORAGE DISORDERS

Type Ia (von Gierke's disease), type Ib.Type II (Pompe's disease).Type III (Forbes-Cori disease).Type IV (Andersen's disease).Type V (McArdle's disease).Type VI (Hers' disease).Type VII (Tarui's disease).Type IX (liver phosphorylase kinase deficiency).Type XI (Fanconi-Bickel syndrome).Type 0 (Lewis' disease).

SYMPTOMSIf the enzyme problem is with one of the enzymes involved in glycogen production (synthesis), this causes reduced amounts of normal glycogen to be produced and sometimes abnormal glycogen being produced.

If the enzyme problem is with one of the enzymes involved in glycogen breakdown back into glucose, this can lead to:Low levels of glucose in your body (a condition known as hypoglycaemia).A build-up of glycogen in your muscles and liver.

DIAGNOSISBlood testsScansBiopsy

TREATMENT OPTIONS FOR GLYCOGEN STORAGE DISORDERS

Need to take regular antibiotic medication to protect against infection.Liver transplant in case of patient not responding to nutritional supplements.

PYRUVATE CARBOXYLASE DEFICIENCYPyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system.

TYPE AResearchers have identified at least three types of pyruvate carboxylase deficiency,Type A, which has been identified mostly in people from North America, has moderately severe symptoms that begin in infancy. Characteristic features include developmental delay and a build-up of lactic acid in the blood (lactic acidosis). Increased acidity in the blood can lead to vomiting,abdominalpain, extreme tiredness

TYPE BPyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth. This form of the condition has been reported mostly in Europe, particularly France. Affected infants have severe lactic acidosis, a build-up of ammonia in the blood (hyperammonemia), and liver failure.

SymptomsThis disease has life threatening symptoms.Affected infants have severe lactic acidosis, a build up of ammonia in the blood (hyperammonemia). And liver failure.They also experience neurological problems.Coma, seizures, abnormal movements are some other symptoms.Infants with this form of the condition usually survive for less than 3 months after birth.

PHARMACOLOGICAL

Therapeutic interventions such as constant drip feeding to prevent hypoglycaemia and the addition of high-dose citrate and aspartate to provide oxaloace.Thiamine, lipoic acid and dichloroacetate used in an attempt to maximise use of alternative metabolic pathways and thus reduce the lactic acidosis.

PROGNOSIS

Despite all therapeutic interventions, the prognosis remains poor, with the majority of affected children dying before the age of six months.Some will survive for a longer period, with severe physical and mental disabilities.The extremely rare, milder 'C' form of the disease may be associated with mild disability and recurrent episodes of lactic acidosis.

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