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.

TYPES• Classic 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 INFANTS

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

SYMPTOMS

• Lack of energy (lethargy), and • A failure to gain weight  • Yellowing of the skin and whites of

the eyes (jaundice), liver damage, and bleeding.

Other serious complications of this condition can include

• Overwhelming 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.

TREATMENT

• Elimination 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.

TREATMENT• Avoid 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).

SYMPTOMS• If 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.

DIAGNOSIS• Blood tests• Scans• Biopsy

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 DEFICIENCY

• Pyruvate 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 A• Researchers 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, abdominal pain, extreme tiredness

TYPE B• Pyruvate 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.

Symptoms• This 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.