Guanidinoacetate methyltransferase deficiency

Guanidinoacetate methyltransferase deficiency:

Guanidinoacetate methyltransferase deficiency: Introduction

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. More detailed information about the symptoms, causes, and treatments of Guanidinoacetate methyltransferase deficiency is available below.

Symptoms of Guanidinoacetate methyltransferase deficiency

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Reduced muscle tone
Progressive extrapyramidal movement disorder
Seizures
Low creatine level
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Wrongly Diagnosed with Guanidinoacetate methyltransferase deficiency?

Misdiagnosis of Guanidinoacetate methyltransferase deficiency

Guanidinoacetate methyltransferase deficiency: Related Patient Stories

creatine

Guanidinoacetate methyltransferase deficiency: Complications

Causes of Guanidinoacetate methyltransferase deficiency

Disease Topics Related To Guanidinoacetate methyltransferase deficiency

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Misdiagnosis and Guanidinoacetate methyltransferase deficiency

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Evidence Based Medicine Research for Guanidinoacetate methyltransferase deficiency

Medical research articles related to Guanidinoacetate methyltransferase deficiency include:

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Research about Guanidinoacetate methyltransferase deficiency

Visit our research pages for current research about Guanidinoacetate methyltransferase deficiency treatments.

Statistics for Guanidinoacetate methyltransferase deficiency

Guanidinoacetate methyltransferase deficiency: Broader Related Topics

Genetic conditions
Metabolic conditions
Congenital conditions - metabolic disorders
Congenital conditions
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Types of Guanidinoacetate methyltransferase deficiency

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Definitions of Guanidinoacetate methyltransferase deficiency:

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

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