Hyperdibasic aminoaciduria type 2

Hyperdibasic aminoaciduria type 2: Introduction

Hyperdibasic aminoaciduria type 2: A rare inborn urea cycle disorder characterized by an enzyme defect in the amino acid transporter gene SLC7A7 (positive amino acid transporter). More detailed information about the symptoms, causes, and treatments of Hyperdibasic aminoaciduria type 2 is available below.

Symptoms of Hyperdibasic aminoaciduria type 2

• Pulmonary alveolar proteinosis
• Glomerulonephritis
• Immune deficiency
• Increased orotic acid in urine
• Truncal obesity
• more symptoms...»

See full list of 26 symptoms of Hyperdibasic aminoaciduria type 2

Hyperdibasic aminoaciduria type 2: Complications

Review possible medical complications related to Hyperdibasic aminoaciduria type 2:

• Anemia
• Leukopenia
• Thrombocytopenia
• Fractures
• Breathing problems
• Bleeding in the lungs
• Pancreatitis
• more complications...»

Less Common Symptoms of Hyperdibasic aminoaciduria type 2

• Mental retardation
• more symptoms...»

Read more about symptoms of Hyperdibasic aminoaciduria type 2

Wrongly Diagnosed with Hyperdibasic aminoaciduria type 2?

• Failure to diagnose Hyperdibasic aminoaciduria type 2
• Hidden causes of Hyperdibasic aminoaciduria type 2 (possibly wrongly diagnosed)
• Undiagnosed: Hyperdibasic aminoaciduria type 2

Causes of Hyperdibasic aminoaciduria type 2

• The genetic disorder is inherited in an autosomal recessive manner
• more causes...»

Read more about causes of Hyperdibasic aminoaciduria type 2

More information about causes of Hyperdibasic aminoaciduria type 2:

• Underlying causes of Hyperdibasic aminoaciduria type 2

Treatments for Hyperdibasic aminoaciduria type 2

• Treatment involves reducing protein in the diet and using lysine, ornithin and citrulline supplements
• more treatments...»

Read more about treatments for Hyperdibasic aminoaciduria type 2

Prognosis for Hyperdibasic aminoaciduria type 2

Prognosis for Hyperdibasic aminoaciduria type 2: The prognosis is variable depending on how well the condition is managed and whether lung complications develop.

More about prognosis of Hyperdibasic aminoaciduria type 2

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