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Dictionary » Phosphomannomutase 2 deficiency
 

Phosphomannomutase 2 deficiency

Introduction: Phosphomannomutase 2 deficiency

Description of Phosphomannomutase 2 deficiency

Phosphomannomutase 2 deficiency (medical condition): A very rare inherited metabolic disorder where defective carbohydrate...more »

See also:

Congenital disorder of glycosylation type 1A:
  »Introduction: Congenital disorder of glycosylation type 1A
  »Symptoms of Congenital disorder of glycosylation type 1A

Phosphomannomutase 2 deficiency: An inborn error of carbohydrate metabolism manifesting as a genetic multisystem disorder of autosomal recessive inheritance. A predominant feature is severe central and peripheral nervous system involvement resulting in psychomotor retardation, seizures, cerebellar ataxia, and other symptoms which include growth retardation, retinitis pigmentosa, hypothyroidism, and fatty liver. The notable biochemical feature is the deficiency of a large number of blood glycoproteins and decreased activities of various blood coagulation factors.
Source: Diseases Database

Phosphomannomutase 2 deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Phosphomannomutase 2 deficiency:

Phosphomannomutase 2 deficiency as a Disease

Phosphomannomutase 2 deficiency: Another name for Congenital disorder of glycosylation type 1A (or close medical condition association).
  »Introduction: Congenital disorder of glycosylation type 1A
  »Symptoms of Congenital disorder of glycosylation type 1A

Phosphomannomutase 2 deficiency: Related Diseases

Phosphomannomutase 2 deficiency: Phosphomannomutase 2 deficiency is listed as a type of (or associated with) the following medical conditions in our database:

Symptoms of Phosphomannomutase 2 deficiency (Congenital disorder of glycosylation type 1A)

Some of the symptoms of Phosphomannomutase 2 deficiency incude:

Terms associated with Phosphomannomutase 2 deficiency:

Terms Similar to Phosphomannomutase 2 deficiency:

Source: Diseases Database

External links related to: Phosphomannomutase 2 deficiency

Source: Diseases Database

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