Disorders of Amino Acid Metabolism Flashcards

1
Q

Oxoprolinuria

A

deficiency of 5 oxoprolinase enzyme

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2
Q

Hyperammonemia

A
  • Def. in any of enzymes of urea cycle
  • Risk inc. if block is earlier as ammonia itself accumulates
    1. Respiratory alkalosis
    2. Encephalopathy
    3. Vomiting
    4. Irritability
    5. Lethargy
    6. MR
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3
Q

Ornithine transporter deficiency

A
HHH
1. Hyperornithemia
2. Hyperammonemia
3. Homocitrullinuria
Ornithine accumulates in cytoplasm
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4
Q

Ornithine transcarbamoylase deficiency

A
  • X linked
    1. Hyperammonemia
    2. Aversion to high protein diet
    3. High glutamine levels in CSF and blood
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5
Q

Argininosuccinate synthetase deficiency

A
  1. Hyperammonemia
  2. Citrullinemia
  3. Citrullinuria
  4. Elevated CSF citrulline levels
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6
Q

Hepatic coma

A

Acquired hyperammonemia/ Portal systemic encephalopathy

  • characteristic of liver failure
  • toxins bypass liver and conc. in systemic circulation inc.
    1. Altered sensorium
    2. Convulsions
    3. Ascites
    4. Jaundice
    5. Hepatomegaly
    6. Edema
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7
Q

A 6-month-old infant began to vomit occasionally and
ceased to gain weight. At 9 months of age he was readmitted to the hospital. Routine examination and laboratory analysis
were normal. After one week, he became drowsy, had fever,
pulse was elevated, and there was hepatomegaly. EEG
was done and was grossly abnormal. Blood ammonia was
elevated and urine contained high amount of glutamine
and uracil.

A

Hyperammonemia

OTC deficiency

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8
Q

Nonketotic Hyperglycemia

A
  • defect in glycine cleavage system
  • Gly levels inc. in blood, urine, CSF
    1. Severe MR
    2. Seizures
    No effective management
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9
Q

Primary hyperoxaluria

A
  • autosomal recessive
  • excess production and excretion of oxalates (600mg/day)
  • protein targeting defect
  • Alanine glyoxylate aminotransferase usually in peroxisomes. But here, in mitochondria
  • it converts glyoxalic acid to gly
  • so, inc. glyoxalate and oxalates produced
    1. Nephrolithiasis
    2. Renal colic
    3. Haematuria
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10
Q

Cystinuria

A
  • Garrod’s tetrad
  • autosomal recessive
  • deficiency in transport of AA
  • Cyanide nitroprusside test +ve
    1. Abnormal excretion of cystine, arginine, lysine and ornithine
    2. Crystalluria, calculi formation
    3. Obstructive uropathy
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11
Q

Cystinosis

A
  • widespread deposition of Cys in lysosomes
  • autosomal recessive
  • due to abnormal transport of Cys
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12
Q

Oasthouse syndrome

A
  • malabsorption of methionine

- excrete Met, aromatic and branched AA

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13
Q

Cystathione beta synthase def.

A
  • inc. plasma and urine levels of Met and HomoCys
  • +ve cyanide nitroprusside test
    1. MR
    2. Charlie chaplin gait
    2. Skeletal deformities
    4. Ectopic lentis, glaucoma
    5. Intravascular thrombosis
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14
Q

N5 N10 Methylene THFA reductase deficiency

A
  • reduced Met syn.
  • inc. HomoCys in urine
    1. Behavioural changes
    2. Vascular abnormalities
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15
Q

Cystathionuria

A
  • Cystathione def.
  • autosomal recessive
  • -ve cyanide nitroprusside test
  • Cystathione in urine
    1. MR
    2. Anaemia
    3. Thrombocytopenia
    4. Endocrinopathies
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16
Q

A 36-year-old woman reported with a dull pain in the
left flank which was radiating towards left leg. She
reports fever and inability to pass urine for the last few
days. Similar history of illness was reported in the last 6
months. She was anemic and abdomen was tender. Routine
urinalysis revealed presence of RBC, pus cells, WBC
casts, characteristic hexagonal crystals and amino acids.

A

Cystinuria

17
Q

An adolescent girl presents with subluxation of lens and
mental retardation. On examination, she is tall and thin
with elongated limbs. Mild scoliosis was present with pectus excavatum and genu valgum.

A

Homocystinuria due to cystathione beta synthase deficiency