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Common Diseases Of

Amino Acid Metabolism

From rita abigail b. tabares
• X-linked (possibly dominant)
• Defect: renal tubular transport of
• 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:
– bone fractures Tx:
– hematuria
– hyperparathyreoidism - hemofiltration/hemodialysis/
, secondary peritonealdialysis
– large liver - liver transplantation
- liver-kidney transplantation
– myocarditis - low-oxalate diet
– nephrocalcinosis - sodium citrate
- Vitamin B6 (pyridoxine)
– osteodystrophy, renal
– pain, bones
– peripheral gangrene
– peripheral neuropathy
– renal failure, acute/chronic

– urolithiasis

• Defect: Renal transport defect of
 (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 fin d in g s
Arginine • Tx
Normal: 38.00-165.00 µmol/l |
Significant : 200.00-800.00 mmol/mol
• 2-
creatinine mercaptopropionyl
Cysteine - homocysteine gycine
| Significant : -230.00 mg/24h • captopril
Normal: 30.00-100.00 mmol/mol • D-penicillamine
creatinine | Significant : 150.00-
1000.00 mmol/mol creatinine • extracorporeal
Lysine shock-wave
Normal: 7.00-29.00 mmol/mol lithotripsy
creatinine | Significant : 150.00-
2000.00 mmol/mol creatinine
• high fluid intake
Normal: 2.00-8.00 mmol/mol creatinine • potassium citrate
| Significant : 200.00-500.00
mmol/mol creatinine • 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
• 3 siblings with cystinosis and severe
dwarfism and the healthy brother
• Symptoms Tx
– Amino acids, urine
cyste a m in e ( o ra l,
– cerebral atrophy e ye d ro p s)
– corneal deposits e le ctro lyte
– dehydration su p p le m e n ta tio n
– encephalopathy h e m o filtra tio n / h e m o d i
– growth retardation a lysis/ p e rito n e a ld ia lysi
– hypothyroidism kid n e y tra n sp la n ta tio n
– large spleen L - ca rn itin e
– liver involvement (acute,
su nchronic,
g la sse s hepatitis)
vita m in D
– metabolic acidosis
• Defect: methionine adenosyl
transferase (liver)
• Characteristic: high blood and
methionine in urine

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

• Symptom
– Amino acids, plasma Tx:
– ataxia
a m in o a cid
– behavior, hyperactive, restless
m ixtu re
– cerebral atrophy lo w -p ro te in d ie t
– growth retardation
so d iu m b e n zo a te
– hyperammonemia
– irritability
– jaundice
– mental retardation

– microcephaly
– Organic acids, urine
S ym p to m :
• Defect: ≠
A m in o a cid s, p la sm a
e valine to α A m in o a cid s, u rin e
ketoisovaleri b e h a vio r, h yp e ra ctive
c acid fa ilu re to th rive
• Elevated g ro w th re ta rd a tio n
plasma level le th a rg y , d ro w sin e ss,
of valine m e n ta lre ta rd a tio n
only m u scle w e a kn e ss
• Tx: low valine vo m itin g
• Characterized as tyrosinemiaI (defect
in tyrosine breakdown) and phenol
• 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 S ym p to m
with A m in o a cid s, p la sm a
a n e m ia
hypophasphate a scite s
b le e d in g te n d e n cie s, h e m o rrh a g e
mic rickets due
to tyrosinemia cirrh o sis o r fib ro sis o f live r
d ia rrh e a
type I edem a
g ro w th re ta rd a tio n
h yp o g lyce m ia
irrita b ility
ja u n d ice
la rg e kid n e ys
la rg e live r
le th a rg y , d ro w sin e ss, m a la ise o r
m e le n a
O rg a n ic a cid s, u rin e
ra n cid , fish y o r ca b b a g e o d o r
ricke ts
vo m itin g
• Tx:
– liver transplantation
– NTBC (2-(2-nitro-4-trifluoro-
– 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
• Characteristics: increased blood and
urine levels of neutral a.a. and
naicin deficiency
• Tx: nicotinamide
• Urine
– Alanine
Normal: 23.00-71.00 mmol/mol creatinine | Significant : -
– Asparagine
Normal: 0.00-6.00 mmol/mol creatinine | Significant : - increased
– Histidine
Normal: 47.00-328.00 mmol/mol creatinine | Significant : -
– 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 : -
– Phenylalanine
Normal: 4.00-17.00 mmol/mol creatinine | Significant : -
– Serine
Normal: 25.00-51.00 mmol/mol creatinine | Significant : -
– Threonine
Normal: 11.00-25.00 mmol/mol creatinine | Significant : -
– 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

• Abnormal Findings in
serum Calcium
Normal: 2.10-2.65 mmol/l | Significant : -
• 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 S ym p to m s:
A m in o a cid s, p la sm a
lysine and α A m in o a cid s, u rin e
ketoglutarat d islo ca te d le n s (
e to e cto p ia le n tis)
g ro w th re ta rd a tio n
saccaropine h yp e rto n ia , spasticity
• Enz: alpha h yp o to n ia
m e n ta l re ta rd a tio n
aminoadipic se izu re s
de synthase