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Arakawa's syndrome 2

Overview

Arakawa's syndrome II is an inborn error of metabolism, a genetic disorder that causes a deficiency of the enzyme tetrahydrofolate-methyltransferase; affected individuals cannot properly metabolize methylcobalamin, a type of Vitamin B12. It is also called Methionine synthase deficiency, Tetrahydrofolate-methyltransferase deficiency syndrome, and N5-methylhomocysteine transferase deficiency.

Symptoms - Arakawa's syndrome 2

  • Megaloblastic anemia
  • Developmental delay
  • Omocystinuria
  • Methionine synthase deficiency
  • Scoliosis
  • Retarded growth
  • Weak muscle tone
  • Enlarged liver
  • Enlarged spleen
  • Seizures

Causes - Arakawa's syndrome 2

Arakawa's syndrome II is inherited in an autosomal dominant manner. This means the defective gene responsible for disorder is located on an autosome, and one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who has the disorder.

Prevention - Arakawa's syndrome 2

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Diagnosis - Arakawa's syndrome 2

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Prognosis - Arakawa's syndrome 2

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Treatment - Arakawa's syndrome 2

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Resources - Arakawa's syndrome 2

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