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Publicerad: 2022-06-23

The Swedish Registry for Inherited Metabolic Diseases, RMMS

The Swedish Registry for Inherited Metabolic Diseases, RMMS, is a national quality registry for long-term follow-up of the care and outcomes of patients with one of 46 metabolic diseases. Every year some 40 patients are diagnosed with one of these diseases. To the quality register is connected a separate decision support (DS), which presents data from the individual patient to the health professional.

The main purpose of the registry is to get an overview of patients with metabolic disease, with the purpose of improving care programs and outcomes, as well as contributing data for equality of care within Sweden. It is optional for each individual patient if they want to contribute their data to the quality registry. 

At the end of 2021 there were 724 patients (excluding porphyrias) registered in the quality registry part of RMMS. This corresponds to 70% of the known patient population in Sweden.

Diagnoses included in RMMS

The following 46 diagnoses are currently included in RMMS, grouped by diagnose type:

  • Aminoacidurias, including co-factor deficiencies; 10 diseases
    • Phenylketonuria, homocystinuria, cobalamin C or G defect, MTHFR deficiency, Maple Syrup Urine Disease (MSUD), tyrosinemia type 1, DHPR-, PTPS-, GTPC deficiency
  • β-oxidation defects; 3 diseases
    • LCHAD-, MCAD-, VLCAD deficiency
  • Errors in the carnitine system; 4 diseases
    • CACT-, CPT 1-, CPT 2 deficiency, primary carnitine uptake deficiency (CUD)
  • Organic acidurias; 6 diseases
    • β-ketothiolase deficiency, glutaric aciduria type 1, isovaleric acidemia, methylmalonic aciduria, propionic acidemia. MAD deficiency is also included in this group, even though this disease is not usually counted as an organic aciduria. 
  • Urea cycle deficiencies; 7 diseases
    • Arginase deficiency, arginino succinatlyase deficiency, citrullinemia, CPS 1 deficiency, HHH-syndrome, NAGS deficiency, OTC deficiency.
  • Neurometabolic diseases; 5 diseases
    • Mucopolysaccharidosis type 1, type 2, type 3, type 4, type 6.
  • Porphyrias; 9 diseases
    • Acute intermittent porphyria (AIP), ALAD deficiency porphyria (ALADP), erytropoetic protoporphyria (EPP), hepatoerytropoetic porphyria (HEP), inherited coproporphyria (HCP), congenital erythropoetic porphyria (CEP), porphyria cutanea tarda (PCT), porphyria variegata (PV), X-linked erythropoetic porphyria (XLEPP)
  • Other diseases; 2 diseases
    • Biotinidase deficiency, galactosemia