METABOLIC DISORDER IN CHILDREN in child healthnursing.pptx

For Nursing students

1. METABOLIC DISORDERS IN NEWBORN MS. PRIYANKA SOLANKI ASSISTANT PROFESSOR

2. 1.Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose to glucose . Galactose is a sugar contained in milk, including human mother's milk as well as other dairy products.

3. galactosemia occurs when an enzyme called galactose-1-phosphate uridyltransferase (GALT) is missing or not functional . This liver enzyme is responsible for breaking down galactose (a sugar byproduct of lactose found in breast milk, cow's milk, and other dairy foods) into glucose.

4. 2. Glycogen storage disease (GSD) is a rare metabolic disorder where the body is not able to properly store or break down glycogen, a form of sugar or glucose . GSD affects the liver, muscles and other areas of the body, depending on the specific type.

5. Features of child with GSD Doll like faces with fat cheeks, Short stature Bulging abdomen

6. 3. Hereditary fructose intolerance is an autosomal recessive disorder where patients lack the enzyme to break down fructose-1-phosphate . This disease usually presents during the weaning period with nausea, vomiting, jaundice, and hypoglycemia .

7. 4. Pyruvate metabolism disorders are carbohydrate metabolism disorders that are caused by a lack of the ability to metabolize a substance called pyruvate . These disorders cause a buildup of lactic acid and a variety of neurologic abnormalities.

8. 5. Homocystinuria is a genetic disorder that affects the metabolism of the amino acid methionine . It is characterised by the presence of excess homocysteine , which is a type of amino acid used in synthesis of proteins.

9. This is usually occurs due to the reduced activity of cystathionine beta synthase enzyme . Amino acids are the building blocks of life. Pectus excavatum is a condition in which the breast bone (sternum) appears sunken and the chest concave . It is sometimes called funnel chest. The child might fail to gain ideal height and weight.

10. 6. Maple syrup urine disease is a rare, inborn error of metabolism, resulting in decreased branched-chain ketoacid dehydrogenase enzyme activity . It characterized by urine and ear wax having distinct odor resembling that of metal syrup.

11. 7. Phenylketonuria , also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body . PKU is caused by a change in the phenylalanine hydroxylase (PAH) gene .

12. Without the enzyme necessary to break down phenylalanine, a dangerous buildup can develop a musty odor in the breath, skin or urine , caused by too much phenylalanine in the body, Nervous system (neurological) problems that may include seizures , Skin rashes, such as eczema.

13. 8. Tyrosinemia is a genetic disorder characterized by problems breaking down the amino acid tyrosine . Accumulation of tyrosine which leads to failure to gain weight and grow as expected. Inability to produce fumarylacetoacetate hydrolase , which is needed for the final breakdown of tyrosine.

14. 9. mitochondrial disorders ; due to defects in the mitichondria of the cell in the body, as a power house of body. It can lead to developmental delays.

15. 10. Menkes disease usually causes low copper levels in blood plasma , the liver and the brain. The condition also reduces the activities of copper-dependent enzymes in the body, leading to retardation and stunted growth.

16. 11. Sickle cell disease is a group of inherited red blood cell disorders that affect hemoglobin , the protein that carries oxygen through the body. Normally, red blood cells are disc/sickle-shaped and flexible enough to move easily through the blood vessels . It cause anaemia and repeated infections..