Conditions

Inherited Metabolic Disorders (IMDs), in particular, represent a group of more than 1400 rare genetic pathologies, classified in 130 different biochemical groups, that impact both children and adults and are quite heterogeneous. In fact, clinical presentations can vary a lot among different IMDs in terms of symptoms and course of the disease.

1

Disorders of intermediary metabolism
1.01

Disorders of amino acid metabolism
1.01.a

Urea cycle disorders and inherited hyper ammonemias
1.01.b

Organic acidurias
1.01.c

Disorders of branched-chain amino acid metabolism
1.01.d

Disorders of phenylalanine and tyrosine metabolism
1.01.e

Disorders of the metabolism of sulfur-containing amino acids and hydrogen sulfide
1.01.f

Disorders of glycine and serine metabolism
1.01.g

Disorders of ornithine, proline and hydroxyproline metabolism
1.01.h

Disorders of lysine, hydroxylysine, and tryptophan metabolism
1.01.i

Disorders of glutamate/glutamine and aspartate/asparagine metabolism
1.01.j

Disorders of histidine metabolism
1.01.k

Disorders of amino acid transport
1.01.l

Other disorders of amino acid metabolism
1.02

Disorders of peptide and amine metabolism
1.02.a

Disorders of glutathione metabolism
1.02.b

Other disorders of peptide metabolism
1.02.c

Disorders of methylamine metabolism
1.02.d

Disorders of polyamine metabolism
1.03

Disorders of carbohydrate metabolism
1.03.a

Disorders of galactose and fructose metabolism
1.03.b

Disorders of gluconeogenesis
1.03.c

Disorders of glycolysis
1.03.d

Disorders of glycogen metabolism
1.03.e

Disorders of pentose metabolism
1.03.f

Disorders of carbohydrate transmembrane transport and absorption
1.04

Disorders of fatty acid and ketone body metabolism
1.04.a

Disorders of carnitine metabolism
1.04.b

Disorders of mitochondrial fatty acid oxidation
1.04.c

Disorders of ketone body metabolism
1.05

Disorders of energy substrate metabolism
1.05.a

Disorders of pyruvate metabolism
1.05.b

Disorders of the Krebs cycle
1.05.c

Disorders of creatine metabolism
1.06

Mitochondrial DNA-related disorders
1.06.a

Disorders of mtDNA-encoded oxidative phosphorylation proteins
1.06.b

Disorders of mtDNA-encoded tRNA and rRNA
1.06.c

Disorders associated with single large-scale mtDNA deletions
1.07

Nuclear-encoded disorders of oxidative phosphorylation
1.07.a

Disorders of complex I subunits and assembly factors
1.07.b

Disorders of complex II subunits and assembly factors
1.07.c

Disorders of complex III subunits and assembly factors
1.07.d

Disorders of complex IV subunits and assembly factors
1.07.e

Disorders of complex V subunits and assembly factors
1.08

Disorders of mitochondrial cofactor biosynthesis
1.08.a

Disorders of coenzyme Q10 biosynthesis
1.08.b

Disorders of lipoic acid and iron-sulfur metabolism
1.08.c

Disorders of mitochondrial cytochrome c biosynthesis
1.09

Disorders of mitochondrial DNA maintenance and replication
1.09.a

Disorders of mitochondrial nucleotide pool maintenance
1.09.b

Disorders of mtDNA replication and maintenance
1.10

Disorders of mitochondrial gene expression
1.10.a

Disorders of mitochondrial transcript processing and modification
1.10.b

Disorders of mitochondrial aminoacyl-tRNA synthetases
1.10.c

Disorders of the mitoribosome
1.11

Other disorders of mitochondrial function
1.11.a

Disorders of mitochondrial shuttles and carriers
1.11.b

Disorders of mitochondrial protein import
1.11.c

Disorders of mitochondrial protein quality control
1.11.d

Miscellaneous disorders associated with mitochondrial dysfunction
1.12

Disorders of metabolite repair/proofreading
1.12.a

Disorders of mitochondrial metabolite repair
1.12.b

Disorders of non-mitochondrial metabolite repair
1.13

Miscellaneous disorders of intermediary metabolism
1.13.a

Disorders of glyoxylate and oxalate metabolism
1.13.b

Unassigned disorders of intermediary metabolism
2

Disorders of lipid metabolism and transport
2.01

Disorders of lipid metabolism
2.01.a

Disorders of fatty acyl synthesis, elongation, and recycling
2.01.b

Disorders of peroxisomal fatty acid oxidation
2.01.c

Disorders of eicosanoid metabolism
2.01.d

Disorders of glycerolipid metabolism
2.01.e

Disorders of glycerophospholipid metabolism
2.01.f

Disorders of sphingolipid synthesis and recycling
2.01.g

Disorders of sterol biosynthesis
2.01.h

Disorders of bile acid metabolism
2.02

Disorders of lipoprotein metabolism
2.02.a

Hypercholesterolemias
2.02.b

Hypertriglyceridemias
2.02.c

Mixed hyperlipidemias
2.02.d

Disorders of high-density lipoprotein (HDL) metabolism
2.02.e

Disorders with decreased low-density lipoprotein (LDL) and/or triglycerides
2.02.f

Other disorders of lipoprotein metabolism
3

Disorders of heterocyclic compounds
3.01

Disorders of nucleobase, nucleotide and nucleic acid metabolism
3.01.a

Disorders of pyrimidine metabolism
3.01.b

Disorders of purine metabolism
3.01.c

Disorders of ectonucleotide and nucleic acid metabolism
3.01.d

Disorders of non-mitochondrial tRNA processing and aminoacyl-tRNA synthetases
3.01.e

Disorders of ribosomal biogenesis
3.02

Disorders of tetrapyrrole metabolism
3.02.a

Disorders of heme synthesis and porphyrias
3.02.b

Disorders of heme degradation and bilirubin metabolism
4

Disorders affecting the metabolism of complex macromolecules and organelles
4.01

Congenital disorders of glycosylation
4.01.a

Disorders of N-linked protein glycosylation
4.01.b

Disorders of O-linked protein glycosylation
4.01.c

Disorders of lipid glycosylation
4.01.d

Disorders of multiple glycosylation pathways
4.01.e

Other disorders of glycan metabolism
4.02

Disorders of organelle biogenesis, dynamics and interaction
4.02.a

Disorders of mitochondrial membrane biogenesis and remodeling
4.02.b

Disorders of mitochondrial and peroxisomal dynamics
4.02.c

Peroxisomal biogenesis disorders
4.02.d

Disorders of lysosome-related organelle biogenesis
4.02.e

Disorders of organelle interplay
4.02.f

Disorders of vesicular trafficking
4.03

Disorders of complex molecule degradation
4.03.a

Disorders of sphingolipid degradation
4.03.b

Disorders of glycosaminoglycan degradation
4.03.c

Disorders of glycoprotein degradation
4.03.d

Neuronal ceroid lipofuscinosis
4.03.e

Disorders of autophagy
4.03.f

Other disorders of complex molecule degradation
5

Disorders of the metabolism of cofactors and minerals
5.01

Disorders of vitamin and cofactor metabolism
5.01.a

Disorders of tetrahydrobiopterin metabolism
5.01.b

Disorders of thiamine metabolism
5.01.c

Disorders of riboflavin metabolism
5.01.d

Disorders of niacin and NAD metabolism
5.01.e

Disorders of pantothenate and CoA metabolism
5.01.f

Disorders of pyridoxine metabolism
5.01.g

Disorders of biotin metabolism
5.01.h

Disorders of folate metabolism
5.01.i

Disorders of cobalamin metabolism
5.01.j

Disorders of molybdenum cofactor metabolism
5.01.k

Other disorders of vitamin metabolism
5.02

Disorders of trace elements and metals
5.02.a

Disorders of copper metabolism
5.02.b

Disorders of iron metabolism
5.02.c

Disorders of manganese metabolism
5.02.d

Disorders of zinc metabolism
5.02.e

Other disorders of trace element metabolism
6

Disorders of metabolic cell signaling
6.01

Neurotransmitter disorders
6.01.a

Monoamine neurotransmission
6.01.b

Gamma-aminobutyric acid neurotransmitter disorders
6.01.c

Glutamate neurotransmitter disorders
6.01.d

Glycine neurotransmitter disorders
6.01.e

Disorders of choline neurotransmission
6.01.f

Disorders of the synaptic vesicle cycle
6.02

Endocrine metabolic disorders
6.02.a

Disorders of insulin metabolism
6.02.b

Disorders of steroid metabolism

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