N-acetyl-glucosamine 1-phosphotransferase deficiency

Introduction: N-acetyl-glucosamine 1-phosphotransferase deficiency

Description of N-acetyl-glucosamine 1-phosphotransferase deficiency

N-acetyl-glucosamine 1-phosphotransferase deficiency (medical condition): A rare inherited biochemical disorder characterized by the harmful accumulation of chemicals (glycoproteins and glycoplipids) due to the deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase).

See also:

I cell disease:
  »Introduction: I cell disease
  »Symptoms of I cell disease

N-acetyl-glucosamine 1-phosphotransferase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for N-acetyl-glucosamine 1-phosphotransferase deficiency:

• N-acetyl-glucosamine
• Acetyl-glucosamine
• Glucosamine
• Phosphotransferase
• Deficiency

N-acetyl-glucosamine 1-phosphotransferase deficiency: Rare Disease

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list N-acetyl-glucosamine 1-phosphotransferase deficiency as a "rare disease".

Source - Orphanet

N-acetyl-glucosamine 1-phosphotransferase deficiency as a Disease

N-acetyl-glucosamine 1-phosphotransferase deficiency: Another name for I cell disease (or close medical condition association).
  »Introduction: I cell disease
  »Symptoms of I cell disease

Symptoms of N-acetyl-glucosamine 1-phosphotransferase deficiency (I cell disease)

Some of the symptoms of N-acetyl-glucosamine 1-phosphotransferase deficiency incude:

• Skeletal deformities
• Developmental delay
• Enlarged liver and spleen
• Recurrent upper respiratory tract infections
• Impaired hearing

See full list of 34 symptoms of N-acetyl-glucosamine 1-phosphotransferase deficiency (I cell disease)

N-acetyl-glucosamine 1-phosphotransferase deficiency: Related Disease Topics

These medical disease topics may be related to N-acetyl-glucosamine 1-phosphotransferase deficiency:

• lysosomal storage disorder
• hepatomegaly
• splenomegaly
• bronchitis
• carpel tunnel syndrome
• mucolipidosis

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Medical dictionaries:

• Medical dictionary,
• Medical Acronymns/Abbreviations

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