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Common Diseases of Amino Acid Metabolism

Common Diseases of Amino Acid Metabolism

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Published by: abstabs on Dec 13, 2009
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Common Diseases Of Amino Acid Metabolism

From rita abigail b. tabares

• X-linked (possibly dominant) • Defect: renal tubular transport of glycine • Formation of oxalate renal stones

Primary Hyperoxaluria
• Continuous urinary excretion of oxalate and calcium oxalate deposits (kidneys and urinary tract) • Renal failure – death • Defect:
– ≠ convert glyoxylic acid into formate – Or to glycine 2° to deficiency of glyoxylic acid oxidizing enz and/or glycine transaminase

• Symptoms:

Tx: – bone fractures – hematuria - hemofiltration/hemodialysis/ – hyperparathyreoidism peritonealdialysis , secondary - liver transplantation – large liver - liver-kidney transplantation – myocarditis - low-oxalate diet - sodium citrate – nephrocalcinosis - Vitamin B6 (pyridoxine) – osteodystrophy, renal – pain, bones – peripheral gangrene – peripheral neuropathy – renal failure, acute/chronic

– urolithiasis

• Defect: Renal transport defect of cystine  (also lys,arg & ornithine) • Formation of cystine stones • Symptoms
– – – – – – – – – Amino acids, urine hematuria infections (urinary tract) onset, adult pain, abdominal renal failure, acute/chronic sulfurous odor urolithiasis X-ray, abnormalities

A b n o rm a l fi d i g s n n Arginine Normal: 38.00-165.00 µmol/l | Significant : 200.00-800.00 mmol/mol creatinine Cysteine - homocysteine disulfide | Significant : -230.00 mg/24h Cystine Normal: 30.00-100.00 mmol/mol creatinine | Significant : 150.001000.00 mmol/mol creatinine Lysine Normal: 7.00-29.00 mmol/mol creatinine | Significant : 150.002000.00 mmol/mol creatinine Ornithine Normal: 2.00-8.00 mmol/mol creatinine | Significant : 200.00-500.00 mmol/mol creatinine

• Tx • 2mercaptopropionyl gycine • captopril • D-penicillamine • extracorporeal shock-wave lithotripsy • high fluid intake • potassium citrate • sodium bicarbonate • sodium citrate • tiopronin

• Cystine storage disease • Defect: impaired lysosomal function • Cystine deposits in tissue and organs throughout the body • Usually accompanied by generalized amino aciduria(amino acids in the urine)

• 3 siblings with cystinosis and severe dwarfism and the healthy brother (right)

• Symptoms
– Amino acids, urine – – – – – – – – –


cyste a m i e ( o ra l n , cerebral atrophy e ye d ro p s) corneal deposits e l ctro l e yte dehydration su p p l m e n ta ti n e o encephalopathy h e m o fi tra ti n / h e m o d i l o growth retardation a l s/ p e ri n e a l i l ysi to d a ysi s hypothyroidism ki n e y tra n sp l n ta ti n d a o large spleen L - ca rn i n e ti liver involvement (acute, n g l sse s hepatitis) su chronic, a vi m i D ta n metabolic acidosis

• Defect: methionine adenosyl transferase (liver) • Characteristic: high blood and methionine in urine •

• Defect: arginase (urea cycle) • Statistics: 1:100000 autosomal recessive • Elevated blood ammonia and arginine •

• Symptom
– Amino acids, plasma

Tx: i o a ci n d m i re xtu l w -p ro te i d i t o n e so d i m b e n zo a te u

– ataxia am – behavior, hyperactive, restless – cerebral atrophy – growth retardation – – – – hyperammonemia irritability jaundice mental retardation

– microcephaly – Organic acids, urine

S ym p to m :

• Defect: ≠ transaminat e valine to α ketoisovaleri c acid • Elevated plasma level of valine only • Tx: low valine

A m i o a ci s, p l sm a n d a

A m i o a ci s, u ri e n d n b e h a vi r, h yp e ra cti o ve

fa i u re to th ri l ve g ro w th re ta rd a ti n o l th a rg y , d ro w si e ss, e n m e n ta lre ta rd a ti n o m u scl w e a kn e ss e vo m i n g ti

• Characterized as tyrosinemiaI (defect in tyrosine breakdown) and phenol aciduria • Autosomal recessive • Type I – fumarylacetoacetate hydrolase defect
– Characteristic: diarrhea, vomiting, “cabbage odor” in infants

• Type II – Richner Hanhart Syndrome
– Defect: hepatic tyrosine transaminase – Characteristic: elevated tyrosine in eyes, and skin lesion

• 7 years old child with hypophasphate mic rickets due to tyrosinemia type I

S ym p to m A m i o a ci s, p l sm a n d a anem i a a sci s te b l e d i g te n d e n ci s, h e m o rrh a g e e n e ci o si o r fi ro si o f l ve r rrh s b s i d i rrh e a a edem a g ro w th re ta rd a ti n o h yp o g l yce m i a i ta b i i rri l ty j undi a ce l rg e ki n e ys a d l rg e l ve r a i l th a rg y , d ro w si e ss, m a l i o r e n a se m el na e O rg a n i a ci s, u ri e c d n ra n ci , fi y o r ca b b a g e o d o r d sh ri ts cke vo m i n g ti

• Tx:
– liver transplantation – NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione) – phenylalanine-restricted diet – tyrosine-restricted diet – vitamin D

Hartnup’s Disease
• Defect: ≠ absorb neutral a.a., renal / intestinal transport defect • Associated with tyrptophan 2,3 dioxygenase • Characteristics: increased blood and urine levels of neutral a.a. and naicin deficiency • Tx: nicotinamide


– Alanine Normal: 23.00-71.00 mmol/mol creatinine | Significant : increased – Asparagine Normal: 0.00-6.00 mmol/mol creatinine | Significant : - increased – Histidine Normal: 47.00-328.00 mmol/mol creatinine | Significant : increased – Indole-3-acetic acid Normal: -0.60 mmol/mol creatinine | Significant : - increased – Isoleucine Normal: 1.00-6.00 mmol/mol creatinine | Significant : - increased – Leucine Normal: 2.00-11.00 mmol/mol creatinine | Significant : increased – Phenylalanine Normal: 4.00-17.00 mmol/mol creatinine | Significant : increased – Serine Normal: 25.00-51.00 mmol/mol creatinine | Significant : increased – Threonine Normal: 11.00-25.00 mmol/mol creatinine | Significant : increased – Tryptophane Normal: 1.00-8.00 mmol/mol creatinine | Significant : - increased – Tyrosine Normal: 5.00-15.00 mmol/mol creatinine | Significant : -

Blue Diaper Syndrome
• Malabsorption of tryptophan • Intestinal bacteria converts unabsorbed try to indican

• Abnormal Findings in serum Calcium Normal: 2.10-2.65 mmol/l | Significant : increased • Abnormal Findings in urine 5-Hydroxyindolacetic acid Normal: -11.50 mmol/mol creatinine | Significant : - increased • Indican | Significant : - increased • Indole-3-acetic acid Normal: -0.60 mmol/mol creatinine | Significant

• ≠ convert lysine and α ketoglutarat e to saccaropine • Enz: alpha aminoadipic semialdehy de synthase (AASS)
S ym p to m s: A m i o a ci s, p l sm a n d a A m i o a ci s, u ri e n d n d i o ca te d l n s ( sl e e cto p i l n ti a e s) g ro w th re ta rd a ti n o h yp e rto n i , spasticity a h yp o to n i a m e n ta l re ta rd a ti n o se i re s zu

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