Alpha-N-acetylgalactosaminidase deficiency, Type II

Alpha-N-acetylgalactosaminidase deficiency, Type II: Introduction

Alpha-N-acetylgalactosaminidase deficiency, Type II: A very rare inherited metabolic disorder where deficiency of an enzyme (alpha-N-acetylgalactosaminidase) causes glycoplids to accumulate in body tissues and result in various symptoms. Type 2 occurs during the second or third decade of life and is milder than type I and doesn't involve neurological degeneration. More detailed information about the symptoms, causes, and treatments of Alpha-N-acetylgalactosaminidase deficiency, Type II is available below.

Symptoms of Alpha-N-acetylgalactosaminidase deficiency, Type II

• Telangiectasia
• Excess urinary sialyglycoaminoacids
• Warty discolorations on skin
• Mildly coarse facial features
• Mild intellectual impairment
• more symptoms...»

See full list of 14 symptoms of Alpha-N-acetylgalactosaminidase deficiency, Type II

Wrongly Diagnosed with Alpha-N-acetylgalactosaminidase deficiency, Type II?

• Misdiagnosis of Alpha-N-acetylgalactosaminidase deficiency, Type II

Causes of Alpha-N-acetylgalactosaminidase deficiency, Type II

Read more about causes of Alpha-N-acetylgalactosaminidase deficiency, Type II.

Misdiagnosis and Alpha-N-acetylgalactosaminidase deficiency, Type II

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis). See symptoms of Vitamin...read more »

Read more about Misdiagnosis and Alpha-N-acetylgalactosaminidase deficiency, Type II

Alpha-N-acetylgalactosaminidase deficiency, Type II: Broader Related Topics

• Genetic conditions
• Metabolic conditions
• Congenital conditions - metabolic disorders
• Congenital conditions
• more types...»

Types of Alpha-N-acetylgalactosaminidase deficiency, Type II

User Interactive Forums

Read about other experiences, ask a question about Alpha-N-acetylgalactosaminidase deficiency, Type II, or answer someone else's question, on our message boards:

• I can not get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for this?
• See all the forums.

Search Specialists by State and City