Orotic aciduria

Introduction: Orotic aciduria

Description of Orotic aciduria

Orotic aciduria (medical condition): A rare metabolic disorder where an inherited enzyme deficiency...more »

See also:

Orotic aciduria hereditary:
  »Introduction: Orotic aciduria hereditary
  »Symptoms of Orotic aciduria hereditary

Orotic aciduria: [MIM*258900] A rare disorder of pyrimidine metabolism characterized by hypochromic anemia with megaloblastic changes in bone marrow, leukopenia, retarded growth, and urinary excretion of orotic acid; autosomal recessive inheritance, caused by mutation in the uridine monophosphatate synthase gene (MMPS) on 3q13. [orotic acid + G. ouron, urine]
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.

Orotic aciduria: excess of orotic acid in the urine occurring in several metabolic disorders and also resulting from the administration of some drugs; one disorder is an autosomal recessive defect of pyrimidine metabolism due to deficiency of orate phosphoribosyltransferate or orotidine 5'-phosphatae decarboxylase.
Source: CRISP

Orotic aciduria: Related Topics

These medical condition or symptom topics may be relevant to medical information for Orotic aciduria:

• Aciduria
• MIM
• Disorder
• Pyrimidine
• Metabolism
• Metabolism disorder
• Hypochromic
• Anemia (926 causes)
• Anemia symptoms (926 causes)
• Bone

Orotic aciduria: Rare Disease

Ophanet

Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Orotic aciduria as a "rare disease".

Source - Orphanet

Orotic aciduria as a Disease

Orotic aciduria: Another name for Orotic aciduria hereditary (or close medical condition association).
  »Introduction: Orotic aciduria hereditary
  »Symptoms of Orotic aciduria hereditary

Orotic aciduria: Related Diseases

Orotic aciduria: Orotic aciduria is listed as a type of (or associated with) the following medical conditions in our database:

• Urinary system conditions
• Metabolic conditions
• Genetic conditions
• Congenital conditions - metabolic disorders
• Congenital conditions

Symptoms of Orotic aciduria (Orotic aciduria hereditary)

Some of the symptoms of Orotic aciduria incude:

• Failure to thrive
• Apathy
• Mental retardation
• Lassitude
• Repeated infections

See full list of 17 symptoms of Orotic aciduria (Orotic aciduria hereditary)

Orotic aciduria: Related Disease Topics

These medical disease topics may be related to Orotic aciduria:

• orotic acid
• autosomal recessive disorder
• ornithine transcarbamylase deficiency
• pyrimidine biosynthesis
• megaloblastic anemia

Terms associated with Orotic aciduria:

Broader terms for Orotic aciduria

• enzyme deficiency
• megaloblastic anemia
• mental retardation
• purine /pyrimidine metabolism disorder

Source - CRISP

The term Orotic aciduria can be used for:

• orotate phosphoribosyltransferase deficiency

Source: CRISP

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