INBORN ERROR OF BRANCHED CHAIN AMINO ACID.pptx

INBORN ERROR OF BRANCHED CHAIN AMINO ACID
Mapple syrup urine disease
Intermittent branched chain ketonuria
Isovaleric acidemia
Hypervalinemia

1. INBORN ERROR OF BRANCHED CHAIN AMINO ACID DR.HP

2. BRANCHED CHAIN AMINO ACID VALINE (Val or V) – Purely Glucogenic LEUCINE(Leu or L)-Purely Kitogenic ISOLEUCINE(Ile or I)-Both Glucogenic & ketogenic This all are ESSENTIAL AMINO ACID.

3. METABOLIC DEFECTS OF BRANCHED CHAIN AMINO ACID MAPLE SYRUP URINE DISEASE INTERMITENT BRANCHED CHAIN KETONURIA ISOVALERIC ACIDEMIA HYPERVALINEMIA

4. 1.MAPLE SYRUP URINE DEASEASE (MSUD) The urin of the affected individuals smells like maple syrup or burnt sugar . ENZYME DEFECT : Branched chain alpha keto acid dehydrogenase. – found in mitochondrial inner membrane This causes blockage of in the conversion of alpha keto acids to respective acyle COA thioesters .

5. The plasma and urine concentration of branched chain amino acids and their keto acids are highly elevated . This diseases is also known as branched chain ketonuria . Autosomal recessive metabolic disorder.

6. symptoms Disease start in first week of life. Acidosis Lethargy Convulsion Mental retardation Coma and death whithin the first year of life

7. Laboratory finding Urine contains branched chain keto acids. Rothra’s test is positive,but unlike in ketoacidosis,even boiled and cooled urine will give the test. Diagnosis depends on enzymes on enzyme analysis in cells. Diagnosis should be done prior to 1 week after birth.

8. Dinitrophenylhydrazine test DNPH Reagent (0.4 DNPH + HCL) and Equal quantity of filtered urine are mixed. Yellow white preciptation whithin 5 minute is positive. Used for diagnosing- branched chain ketoaciduria MSUD Isovaleric aciduria

9. treatment Early diagnosis by enzyme analysis -preferably whithin the first week of life-is ideal. Diet with low quantity of branched chain amino acid should be given. Mild variants of MSUD respond to high doses of thiamine . In severe cases of MSUD – liver transplantation is required.

10. 2.Intermittent branched chain ketonuria This is less seveare form of MSUD. Enzyme defect is same : alpha keto acid dehydrogenase There is an impairment and no total blockade in the conversion of alpha keto acid to their respective acyl CoA thioesters. Symptoms are not seveare as much as MSUD. Careful diet planing adequte to overcome this disorder.

11. 3.Isovaleric acidemia This is specific inborn error of leucine metabolism. Defect enzyme – isovaleryl CoA impaired. Excreation of isovalerate is high in urine. Affected individual exhibit cheesy odour in breath and body fluid. Symptoms: acidosis Mild mental retardation

12. 4.hypervalinemia It is characterized by increased serum concerntration of valine Leucine and isolucine levels remain normal. Transamination of valine alone is selectively impaired.

13. Refrences U. SATYANARAYANA DM VASUDEVAN