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Clinical case studies- protein metabolism II

Clinical case studies- protein metabolism II. Dr Greeshma. Case 1. A newborn baby was found to have marked u nderpigmenation all over the body. The baby had e xtremely pale skin , hair and blue eyes. Both the parents are quite healthy and normal.But they gave a history of

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Clinical case studies- protein metabolism II

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  1. Clinical case studies-protein metabolism II DrGreeshma

  2. Case 1 A newborn baby was found to have marked underpigmenation all over the body. The baby had extremely pale skin , hair and blue eyes. Both the parents are quite healthy and normal.But they gave a history of similar problem in one of their grandparents on the paternal side. What is your inference of this case? What is the cause of this disorder? Trace the pathway of the amino acid from which this important product is formed.

  3. Albinism • Tyrosinase deficiency

  4. Tyrosine ++ O2 Tyrosinase(Cu ) H2O Dihydroxy phenylalanine (DOPA) O2 Tyrosinase H2O Dopaquinone Decarboxylation & oxidation Indolequinone Polymerisation Melanin

  5. Case 2 A mother sought medical help for her child with the complaint that diapers used for the child were stained with dark urine. On exposure, the stains became more blackish. Urine was reduced in Benedict’s solution. Glucose oxidase test was negative. Ferric chloride test showed purple-black colour. Laboratory investigations revealed normal fasting and post -lunch blood sugar levels. Serum uric acid concentration was normal. What is your probable diagnosis?What is the cause of this disorder?

  6. Alkaptonuria absence of homogentesicacid oxidase

  7. Alkaptonuria Biochemical defect Homogentesic acid oxidase Homogentisic acid Maleyl aceto acetic acid Oxidation & Urine Polymerisation Alkaptone bodies (black pigment) Deposition in connective tissues (Bones, cartilage of nose, pinna of ear) (Ochronosis) Arthritis

  8. Tyrosine Catabolism Tyrosine transaminase αKG PLP Glutamate Para hydroxy phenylpyruvate O2 P- hydroxy phenyl pyruvate hydroxylase(Cu ) Vit C ++ CO2 Dihydroxyphenylacetate(Homogentisic acid) Homogentisicacid oxidase(Fe2+) Maleylacetoaceticacid Maleylacetoacetateisomerase Fumarylacetoaceticacid Fumarylacetoacetatehydrolase Fumarate Aceto acetate TCA cycle Ketogenic pathway Glucogenic pathway

  9. Case 3 A five year old fair, chubby boy was brought to the hospital with complaints of delayed developmental milestones, mental retardation, seizures and eczema. He exhibits light-coloured hair, skin and eyes. Blood Phenylalanine levels were more than 30mg/dl ( normal 1-2 mg/dl) . Guthrie bacterial inhibition assay was positive and ferric chloride test showed blue-green colour. What is your probable diagnosis? What is the possible cause of this disorder?

  10. Phenyl ketonuria (PKU) deficiency of Phenyalanine hydroxylase enzyme

  11. Phenyl ketonuria (PKU) Biochemical defect Phenyalanine hydroxylase Phenylalanine Tyrosine Transamination Phenylpyruvate Reduction Decarboxylation Phenyl lactate Phenylacetate Conjugation (Glutamine) Phenylacetyl glutamine

  12. Case 4 A five year old girl was brought to the hospital with vision problems and stunted growth. Her mother indicated that the girl’s milestones were delayed and there were signs of mental retardation. Clinical examination revealed that she had long thin bones and x-rays indicated signs of osteoporosis. Urine cyanide nitroprusside test was positive. Vitamin B6 supplementation did not result in any improvement. What is your inference about this case? What is the possible cause of this disorder? Write the associated pathway.

  13. Homocystinuria Cystathionineβsynthase deficiency

  14. Methionine S-adenosylmethionine S-adenosyl homocysteine Adenosine homocysteinase adenosine Homocysteine Serine (PLP) Cystathionineβsynthase H2O Cystathionine H2O (PLP) Cystathionase Cysteine + Homoserine

  15. Case 5 A 22 year old male is brought to hospital with a complaint of hematuria and severe pain in his lower right flank.Urine examination revealed elevated levels of cystine, ornithine, arginineand lysine. Microscopic examination showed hexagonal crystal deposit. Urine examination was positive for the cyanide nitroprusside test. Further X-rays showed the presence of stones in kidney. What is your probable diagnosis? What is the possible cause of this disorder?

  16. Cystinuria Defective transporters in the kidney for amino acids cystine, lysine, arginine and ornithine, due to which kidneys fail to reabsorb them.

  17. CASE 6 A 3 week old infant was passing urine which smelled like burnt sugar. Subsequently, an overwhelming acidosis developed associated with vomitting and CNS related symptoms. On investigation, the concentration of branched chain amino acids( val, leu and Ile) in plasma and urine were found to be very high. On further investigation, the enzyme activity of branched chain α Keto acid dehydrogenase was found to be very low. What is your inference about this case? What is the possible cause of this disorder?

  18. Maple syrup urine disease (MSUD)

  19. Maple syrup urine disease (MSUD) Biochemical defect Branch chain amino acids Increased excretion in urine Corresponding branch chain α keto acids Branched chain α keto acid dehydrogenase Corresponding branch chain fatty acyl CoA

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