N-acetyl-alpha-D-galactosaminidase deficiency

Introduction: N-acetyl-alpha-D-galactosaminidase deficiency

Description of N-acetyl-alpha-D-galactosaminidase deficiency

N-acetyl-alpha-D-galactosaminidase deficiency (medical condition): A very rare enzyme deficiency (N-acetyl-alpha-D-galactosaminidase) which can occur in three forms: type I (infantile-onset neuroaxonal dystrophy), type II or Kanzaki disease (adult-onset) and type III (mild or moderate form).

See also:

N-acetyl-alpha-D-galactosaminidase:
  »Introduction: N-acetyl-alpha-D-galactosaminidase
  »Symptoms of N-acetyl-alpha-D-galactosaminidase

N-acetyl-alpha-D-galactosaminidase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for N-acetyl-alpha-D-galactosaminidase deficiency:

• N-acetyl-alpha-D-galactosaminidase
• Deficiency

N-acetyl-alpha-D-galactosaminidase 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-alpha-D-galactosaminidase deficiency as a "rare disease".

Source - Orphanet

N-acetyl-alpha-D-galactosaminidase deficiency as a Disease

N-acetyl-alpha-D-galactosaminidase deficiency: Another name for N-acetyl-alpha-D-galactosaminidase (or close medical condition association).
  »Introduction: N-acetyl-alpha-D-galactosaminidase
  »Symptoms of N-acetyl-alpha-D-galactosaminidase

Symptoms of N-acetyl-alpha-D-galactosaminidase deficiency (N-acetyl-alpha-D-galactosaminidase)

Some of the symptoms of N-acetyl-alpha-D-galactosaminidase deficiency incude:

• Telangiectasia
• Excess urinary sialylglycoaminoacids
• Warty discolorations on skin
• Mildly coarse facial features
• Mild intellectual impairment

See full list of 18 symptoms of N-acetyl-alpha-D-galactosaminidase deficiency (N-acetyl-alpha-D-galactosaminidase)

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Medical dictionaries:

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• Medical Acronymns/Abbreviations

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Unspecified type of abortion, unspecified, with unspecified complication

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