Definition:
Guanidinoacetate methyltransferase deficiency, otherwise known as GAMT Deficiency, is an autosomal recessive metabolic disorder. It is said to affect the nervous system and the muscles. Affected children lose previously acquired skills like head control and ability to sit unsupported if affected with the GAMT deficiency.
Diagnosis:
Diagnosis includes medical history and clinical examinations of neurological symptoms.
(Almeida LS, Vilarinho L, Darmin PS, Rosenberg EH, Martinez-Munoz C, Jakobs C, Salomons GS. A prevalent pathogenic GAMT mutation in Portugal. Mol Genet Metab. 2007 May;91(1):1-6).
Treatment:
Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism
Symptoms and Signs:
Its symptoms includes muscle weakness, disorder experiences, tremors, facial tics and seizures
Causes:
Guanidinoacetate methyltransferase deficiency is inherited disorder.
:
guanidinoacetatemethyltransferasedeficiency
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