maladies métaboliques monogéniques héréditaires rares
avenant à la convention avec les centres de référence – annexe
A. disorders of amino acid metabolism
classical phenylketonuria and hyperphenylala-
ninemia
phenylketonuria due to PTPS deficiency
phenylketonuria due to DHPR deficiency
phenylketonuria due to PCD deficiency
DOPA-responsive dystonia (TH, SPR, GCH1)
leucinose, maple syrup urine disease (MSUD)
homocystinuria, B6 responsive and non responsive
homocystinuria due to MTHFR deficiency
homocystinuria-megaloblastic anemia Cbl E & G
type
methionine S-adenosyltransferase deficiency
glycine N-methyltransferase deficiency
S-adenosylhomocystine hydrolase deficiency
hyperammonemia due to CPS deficiency
hyperammonemia due to OTC deficiency
argininosuccinic aciduria (ASL deficiency)
argininemia (arginase deficiency)
hyperammonemia due to NAGS deficiency
hyperornithinemia, hyperammonemia, homocitrulli-
nuria (HHH)
lysinuric protein intolerance
gyrate atrophy, B6 responsive or non responsive
hyperlysinemia (alpha-aminoadipic semialdehyde
synthase deficiency)
non ketotic hyperglycinaemia
Disorders of serine metabolism
239500-239510-237000-
612652-179035
Disorders of proline/hydroxyproline/pyrroline 5-
carboxylate metabolism
Lowe oculocerebral syndrome
251100-110 277400-410-380
methylmalonic aciduria (CblA,B,C,D,F)