What is Guanidinoacetate methyltransferase deficiency?

What is Guanidinoacetate methyltransferase deficiency?

• Guanidinoacetate methyltransferase deficiency: A rare disorder of amino acid metabolism where glycine and proline are unable to be metabolized properly due to deficiency of the enzyme called guanidinoacetate methyltransferase.

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Guanidinoacetate methyltransferase deficiency as a "rare disease".
Source - Orphanet

Guanidinoacetate methyltransferase deficiency: Introduction

Types of Guanidinoacetate methyltransferase deficiency:

Broader types of Guanidinoacetate methyltransferase deficiency:

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

How serious is Guanidinoacetate methyltransferase deficiency?

Complications of Guanidinoacetate methyltransferase deficiency: see complications of Guanidinoacetate methyltransferase deficiency

What causes Guanidinoacetate methyltransferase deficiency?

Causes of Guanidinoacetate methyltransferase deficiency: see causes of Guanidinoacetate methyltransferase deficiency

What are the symptoms of Guanidinoacetate methyltransferase deficiency?

Symptoms of Guanidinoacetate methyltransferase deficiency: see symptoms of Guanidinoacetate methyltransferase deficiency

Complications of Guanidinoacetate methyltransferase deficiency: see complications of Guanidinoacetate methyltransferase deficiency

Guanidinoacetate methyltransferase deficiency: Testing

Misdiagnosis: see misdiagnosis and Guanidinoacetate methyltransferase deficiency.

How is it treated?

Doctors and Medical Specialists for Guanidinoacetate methyltransferase deficiency: Medical Geneticist ; see also doctors and medical specialists for Guanidinoacetate methyltransferase deficiency.
Treatments for Guanidinoacetate methyltransferase deficiency: see treatments for Guanidinoacetate methyltransferase deficiency
Research for Guanidinoacetate methyltransferase deficiency: see research for Guanidinoacetate methyltransferase deficiency

Name and Aliases of Guanidinoacetate methyltransferase deficiency

Main name of condition: Guanidinoacetate methyltransferase deficiency

Creatine deficiency, cerebral, GAMT deficiency

Guanidinoacetate methyltransferase deficiency: Related Conditions

Research the causes of these diseases that are similar to, or related to, Guanidinoacetate methyltransferase deficiency:

• Autosomal recessive metabolic disorder
• Autism
• Seizures
• Neurological symptoms
• Mental retardation
• Muscle weakness

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