N5-methylhomocysteine transferase deficiency

Introduction: N5-methylhomocysteine transferase deficiency

Description of N5-methylhomocysteine transferase deficiency

N5-methylhomocysteine transferase deficiency (medical condition): An inherited metabolic disorder where an enzyme...more »

See also:

Arakawa's syndrome 2:
  »Introduction: Arakawa's syndrome 2
  »Symptoms of Arakawa's syndrome 2

N5-methylhomocysteine transferase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for N5-methylhomocysteine transferase deficiency:

• Transferase
• Deficiency
• Deficiency disease

N5-methylhomocysteine transferase deficiency: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

N5-methylhomocysteine transferase deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that N5-methylhomocysteine transferase deficiency, or a subtype of N5-methylhomocysteine transferase deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list N5-methylhomocysteine transferase deficiency as a "rare disease".

Source - Orphanet

N5-methylhomocysteine transferase deficiency as a Disease

N5-methylhomocysteine transferase deficiency: Another name for Arakawa's syndrome 2 (or close medical condition association).
  »Introduction: Arakawa's syndrome 2
  »Symptoms of Arakawa's syndrome 2

N5-methylhomocysteine transferase deficiency: Related Diseases

N5-methylhomocysteine transferase deficiency: N5-methylhomocysteine transferase deficiency is listed as a type of (or associated with) the following medical conditions in our database:

• Congenital conditions - metabolic disorders
• Congenital conditions
• Genetic conditions
• Metabolic conditions
• Blood conditions
• Brain conditions
• Nervous system conditions
• Mental retardation conditions
• Intellectual or developmental disabilities

Symptoms of N5-methylhomocysteine transferase deficiency (Arakawa's syndrome 2)

Some of the symptoms of N5-methylhomocysteine transferase deficiency incude:

• Megaloblastic anemia
• Developmental delay
• Omocystinuria
• Methionine synthase deficiency
• Scoliosis

See full list of 10 symptoms of N5-methylhomocysteine transferase deficiency (Arakawa's syndrome 2)

N5-methylhomocysteine transferase deficiency: Related Disease Topics

These medical disease topics may be related to N5-methylhomocysteine transferase deficiency:

• growth retardation
• megaloblastic anemia
• pectus excavatum
• scoliosis
• vomiting
• diarrhea
• hepatosplenomegaly. autosomal dominant disorder

Terms associated with N5-methylhomocysteine transferase deficiency:

Terms Similar to N5-methylhomocysteine transferase deficiency:

• Tetrahydrofolate-methyltransferase deficiency syndrome
• Arakawa's syndrome II
• Methionine synthase deficiency

Source - NIH

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