Amino acid Metabolism - Government Medical College › lib › exe › fetch.php?media=... ·...
Transcript of Amino acid Metabolism - Government Medical College › lib › exe › fetch.php?media=... ·...
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Amino acid Metabolism
Dr Piyush TailorAssociate Professor
Department of Biochemistry
Govt. Medical College
Surat
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Fates of carbon skeleton of amino acid
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Alkaptonuria
� Inherited disorder of the Tyrosine metabolism
� Absence of Homogentisate oxidase.
� Homogentisic acid is accumulated
� Excreted in the urine
� Turns black (Benzoqinone Acetate) on exposure to air
Clinical Features
�In children:
� Urine in diaper = Black Stain
� In adults:
� Connnective tissue Pigmentation (Ochronosis)
� Darkening of the Ear
� Dark spots on the on the sclera and cornea
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Accumulation of oxidized homogentisic acid in
connective tissueArthritis of the Spine
Urine turns a black color upon exposure to air Aortic valve Stenosis
connective tissue
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Diagnosis
• Benedict Test
– Urine Sample = Homogentisic Acid
– Positive test– Positive test
• Imaginary Study
• Chromatography
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Phenylalanine to Tyrosine
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Phenylketonuria = Biochemical Alteration
• No Dopamine
– Extrapyramidal manifestration (Parkinosonism)
– Seizure
– Hypotonia
– Tremor
• No Epinephrine• No Epinephrine
• No Norephnephrine
• No Melanine
– Light colour skin
– Eye abnormality = Hypopigmetation
• No Thyroid hormone
– Physical & Mental Growth retardation
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• Accumulation of Phenyalanine (Large Neutral)
– Restrict entry of some other Large neutral AA
– Decrease synthesis of Other Neurotransmitter
– Decrease Interactuall activity
• Accumulation of Phenylacetate
Phenylketonuria = Biochemical Alteration
• Accumulation of Phenylacetate
– “Musty Odour” Urine & Sweat
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Phenylketonuria Diagnosis
• Ferric Chloride Test
• Guthrie test = Screening Neonate
• Tandem Mass spectroscopy
• Genetic Study
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Guthrie Test
Screening by Bacterial Inhibition
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Albinism = Deficiency of Tyrosinase
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Symptoms of Albinism
• lack of melanin in skin, hair,
eyes
• Increased sensitivity to
sunlight
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Tryptophane Metabolism
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Carcinoid Syndrome
• Carcinoid Tumour = Tumour of Endocrine gland
• Paraneoplastic Syndrome
– This Malignant cell produce “Hormone”
• In Carcinoid Tumor = Paraneoplastic Syndrome
= Carcinoid Syndrome
• Increase Production of Serotonin from Tryptophan
• Decrease Production of Niacin
• Patient Suffer from Pellagra
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Monoamino Oxidase Inhibitor
• Decrease Break down of Serotonin
• Increase Level of Serotonin
• Clinical Useful in
– Depression
– Schizophenia
• As well As Increase level of
– Epinepherin
– Norepinepherin
– Dopamine
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Methionine Metabolism
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Folate Trap
• Vitamin B 12 deficiency
• Decrease Methionine synthase activity
• 5 – methyl- THF can not converted to THF
• No methyl group transfer
• No Methionine• No Methionine
• No SAM
– DNA replication affected
– Increase Homocysteine level
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Hyperhomocysteinemia
Ectopia lentis = Dislocation of Eye lens
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Hartnup Disease
Etiology
Genetic Disorder
Autosomal Recessive
Pathogenesis
Failure of Amino Acid (Non-Polar Amino acid )Transport
In Intestine
In KidneyIn Kidney
Decrease absorption of Tryptophan
Decrease Reabsorption of Tryptophan
Increase Loss of Tryptophan
Clinical Feature
Pellagra
Fanconi Syndrome
Etiology
Congenital or Acquired
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Hartnup Disease
Etiology
• Genetic Disorder
• Autosomal Recessive
Pathogenesis
• Failure of Amino Acid (Non-
Polar Amino acid ) Transport
– In Intestine & Kidney
Fanconi Syndrome
Etiology
• Congenital or Acquired
Pathogenesis
• Inadequate absorption in
Proximal Renal Tubules
• Reabsorption of Amino acid
,Glucose, Uric acid ,– In Intestine & Kidney
• Decrease absorption of
Tryptophan
• Decrease Reabsorption of
Tryptophan
• Increase Loss of Tryptophan
Clinical Feature
• Pellagra
,Glucose, Uric acid ,
Phosphate , Bicarbonate
Clinical Feature• Polyuria , Polydipsia & dehydration
• Hypophosphatemia
• Rickets.
• Osteomalacia (in adults)
• Growth failure
• Metabolic Acidosis
• Hypokalemia
• Hyperchloremia
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Creatine & Creatinine Synthesis
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Neurological Symptoms – Cerebral damage
Diarrhea , Vomiting, Weight Loss, Anorexia
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