Subnetworks

Structure of the MetabERN Disease Coverage: the MetabERN 7 subnetworks

NOMS

Disorders of neuromodulators and other small molecules
NOMS is the MetabERN subnetwork for neurotransmitter and small molecule disorders, covering defects of biogenic amines (serotonin, dopamine) and amino acid neurotransmitters (glutamate, glycine, GABA), diagnosed via spinal fluid analysis.

CDG

Congenital disorders of glycosylation and disorders of intracellular trafficking
CDG is the MetabERN subnetwork for congenital disorders of glycosylation and intracellular trafficking: over 100 mostly autosomal recessive diseases of impaired glycosylation, frequently presenting with neurological and multiorgan involvement.

PD

Peroxisomal and lipid-related disorders
PD is the MetabERN subnetwork for peroxisomal and lipid-related disorders, spanning peroxisome biogenesis defects and sterol disorders such as Smith-Lemli-Opitz syndrome, cerebrotendinous xanthomatosis and sitosterolemia.

LSD

Lysosomal storage disorders
LSD is the MetabERN subnetwork for lysosomal storage disorders: over 60 mostly autosomal recessive diseases (Fabry disease and MPS II are X-linked) causing progressive, often neurodegenerative multi-organ disease from lysosomal...

C-FAO

Carbohydrate, fatty acid oxidation and ketone bodies disorders
C-FAO is the MetabERN subnetwork for carbohydrate, fatty acid oxidation and ketone body disorders: inherited defects of cellular energy metabolism that often cause hypoglycemia, cardiomyopathy, myopathy and liver dysfunction.

PM-MD

Disorders of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism
PM-MD is the MetabERN subnetwork for disorders of pyruvate metabolism, mitochondrial oxidative disorders and thiamine transport and metabolism: inherited diseases that impair cellular ATP production, affecting high-energy organs.

AOA

Aminoacid and organic acids related disorders
AOA is the MetabERN subnetwork for amino and organic acid disorders: the oldest group of inborn errors of metabolism, diagnosed by amino acid and organic acid profiling and managed largely...

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