Autosomal recessive hereditary disorder	Autosomal recessive hereditary disorder	Functional defects of methionine synthase	Functional defects of methionine synthase	Hereditary metabolic disease	Homocystinuria	Homocystinuria
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Homocystinuria without methylmalonic aciduria (disorder)
	Homocystinuria without methylmalonic aciduria
	Functional methionine synthase deficiency
	An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). These disorders are caused by a functional deficiency of the cytoplasmic enzyme methionine synthase (MS), which catalyzes remethylation of homocysteine to form methionine.
	homocystinurie zonder methylmalonacidurie
	homocystinurie zonder MMA functionele methioninesynthasedeficiëntie

Id	721225009
Status	Primitive

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E72.1
Rule	TRUE
Advice	ALWAYS E72.1
Correlation	SNOMED CT source code to target map code correlation not specified

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Methylcobalamin deficiency type cbl G