Rare diseases that primarily involve the metabolic system. Each links to its full hub — overview, specialists, clinical trials, medications and community.
How this grouping is built. These conditions are grouped by a clinical keyword match on the disease name — the same conservative classifier Tomeko uses to pick each hub’s system motif. It is a Tomeko working grouping, not an official Orphanet organ classification, and some conditions affect more than one system. Every condition is itself catalogued from NIH GARD (Genetic and Rare Diseases Information Center) and Orphanet (orpha.net), and each hub cites its own sources. Sorted A→Z by name · 407 conditions · last built 2026-08-30.
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A17
- A4GALT-Congenital Disorder Of Glycosylation
- Acute Neonatal Citrullinemia Type I
- Adult-Onset Citrullinemia Type I
- ALG1-Congenital Disorder Of Glycosylation
- ALG10-Congenital Disorder Of Glycosylation
- ALG11-Congenital Disorder Of Glycosylation
- ALG12-Congenital Disorder Of Glycosylation
- ALG14-Congenital Disorder Of Glycosylation
- ALG2-Congenital Disorder Of Glycosylation
- ALG3-Congenital Disorder Of Glycosylation
- ALG6-Congenital Disorder Of Glycosylation 1C
- ALG8 Congenital Disorder Of Glycosylation
- ALG9 Congenital Disorder Of Glycosylation
- Alpha-Mannosidosis Type 1
- Alpha-Mannosidosis, Adult Form
- Alpha-Mannosidosis, Infantile Form
- ASAH1-Related Sphingolipidosis
B3
C46
- Camptodactyly-Taurinuria Syndrome
- CCDC115-CDG
- Cholestanol Storage Disease
- Cholesteryl Ester Storage Disease
- Chronic Neurovisceral Acid Sphingomyelinase Deficiency
- Citrullinemia
- Citrullinemia Type I
- Citrullinemia Type II
- Citrullinemia, Type II, Adult-Onset
- Classic Homocystinuria
- Classic Organic Aciduria
- Classical Maple Syrup Urine Disease
- Classical Phenylketonuria
- Cobalamin C Disease
- COG1 Congenital Disorder Of Glycosylation
- COG4-Congenital Disorder Of Glycosylation
- COG5-Congenital Disorder Of Glycosylation
- COG6-Congenital Disorder Of Glycosylation
- COG7 Congenital Disorder Of Glycosylation
- COG8-Congenital Disorder Of Glycosylation
- Combined Malonic And Methylmalonic Acidemia
- Congenital Disorder Of Deglycosylation
- Congenital Disorder Of Deglycosylation 1
- Congenital Disorder Of Deglycosylation 2
- Congenital Disorder Of Glycosylation
- Congenital Disorder Of Glycosylation Type 1E
- Congenital Disorder Of Glycosylation Type I
- Congenital Disorder Of Glycosylation Type II
- Congenital Disorder Of Glycosylation Type Ir
- Congenital Disorder Of Glycosylation With Defective Fucosylation
- Congenital Disorder Of Glycosylation With Defective Fucosylation 1
- Congenital Disorder Of Glycosylation With Defective Fucosylation 2
- Congenital Disorder Of Glycosylation, Type 1DD
- Congenital Disorder Of Glycosylation, Type 2v
- Congenital Disorder Of Glycosylation, Type IAA
- Congenital Disorder Of Glycosylation, Type Ibb
- Congenital Disorder Of Glycosylation, Type ICC
- Congenital Disorder Of Glycosylation, Type IIaa
- Congenital Disorder Of Glycosylation, Type IIbb
- Congenital Disorder Of Glycosylation, Type IIq
- Congenital Disorder Of Glycosylation, Type IIr
- Congenital Disorder Of Glycosylation, Type Iit
- Congenital Disorder Of Glycosylation, Type IIw
- Congenital Disorder Of Glycosylation, Type IIy
- Congenital Disorder Of Glycosylation, Type IIz
- Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
D21
- D,L-2-Hydroxyglutaric Aciduria
- D-2-Hydroxyglutaric Aciduria
- D-2-Hydroxyglutaric Aciduria 1
- D-2-Hydroxyglutaric Aciduria 2
- D-Glyceric Aciduria
- Danon Disease
- Deficiency Of 2-Methylbutyryl-CoA Dehydrogenase
- Deficiency Of Acetyl-CoA Acetyltransferase
- Deficiency Of Hyaluronoglucosaminidase
- Deficiency Of Hydroxymethylglutaryl-CoA Lyase
- Deficiency Of Isobutyryl-CoA Dehydrogenase
- Deficiency Of Malonyl-CoA Decarboxylase
- Dicarboxylic Aminoaciduria
- Dihydropteridine Reductase Deficiency
- Disorder Of Defective Peroxisomal And Mitochondrial Fission
- Disorder Of Fatty Acid Oxidation And Ketogenesis
- Disorder Of Multiple Glycosylation
- Disorder Of Protein N-Glycosylation
- Disorder Of Protein O-Glycosylation
- DPAGT1-Congenital Disorder Of Glycosylation
- DPM3-Congenital Disorder Of Glycosylation
F7
G39
- Gaucher Disease
- Gaucher Disease Due To Saposin C Deficiency
- Gaucher Disease Perinatal Lethal
- Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
- Gitelman-Like Kidney Tubulopathy Due To Mitochondrial DNA Mutation
- Glutaric Acidemia IIa
- Glutaric Acidemia IIb
- Glutaric Acidemia IIc
- Glutaric Aciduria, Type 1
- Glutaryl-CoA Oxidase Deficiency
- Glycogen Phosphorylase Kinase Deficiency
- Glycogen Storage Disease
- Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
- Glycogen Storage Disease Due To Acid Maltase Deficiency, Late-Onset
- Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type IA
- Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
- Glycogen Storage Disease Due To Lactate Dehydrogenase H-Subunit Deficiency
- Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
- Glycogen Storage Disease Due To Muscle And Heart Glycogen Synthase Deficiency
- Glycogen Storage Disease Due To Muscle Beta-Enolase Deficiency
- Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
- Glycogen Storage Disease Id
- Glycogen Storage Disease IXa1
- Glycogen Storage Disease IXa2
- Glycogen Storage Disease IXb
- Glycogen Storage Disease IXc
- Glycogen Storage Disease IXd
- Glycogen Storage Disease Type 1 Due To SLC37A4 Mutation
- Glycogen Storage Disease Type III
- Glycogen Storage Disease Type X
- Glycogen Storage Disease, Type I
- Glycogen Storage Disease, Type II
- Glycogen Storage Disease, Type IV
- Glycogen Storage Disease, Type V
- Glycogen Storage Disease, Type VII
- Glycoprotein Storage Disease
- GNPTAB-Mucolipidosis
- GNPTG-Mucolipidosis
- GYG1-Related Disorder Of Glycogen Metabolism
H15
- Hearing Loss, Sensorineural, Autosomal-Mitochondrial Type
- Hereditary Orotic Aciduria
- HNSHA Due To Aldolase A Deficiency
- Homocystinuria
- Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
- Homocystinuria Without Methylmalonic Aciduria
- HSD10 Disease, Infantile Type
- HSD10 Disease, Neonatal Type
- HSD10 Mitochondrial Disease
- Hurler Syndrome
- Hydroxykynureninuria
- Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency
- Hyperdibasic Aminoaciduria Type 1
- Hyperphenylalaninemia Due To DNAJC12 Deficiency
- Hypotonia With Lactic Acidemia And Hyperammonemia
I6
- Inborn Disorder Of Amino Acid And Other Organic Acid Metabolism
- Inborn Disorder Of Glycosphingolipid And Glycosylphosphatidylinositol Anchor Glycosylation
- Inborn Mitochondrial Metabolism Disorder
- Inborn Organic Aciduria
- Inherited Glutathione Synthetase Deficiency
- Isolated Methylmalonic Aciduria CblD Type
L5
M169
- Maple Syrup Urine Disease
- Maternal Phenylketonuria
- Methylmalonic Acidemia
- Methylmalonic Acidemia Due To Methylmalonyl-CoA Epimerase Deficiency
- Methylmalonic Acidemia Due To Transcobalamin Receptor Defect
- Methylmalonic Acidemia With Homocystinuria, Type CblJ
- Methylmalonic Acidemia With Homocystinuria, Type CblX
- Methylmalonic Aciduria And Homocystinuria
- Methylmalonic Aciduria And Homocystinuria Type CblD
- Methylmalonic Aciduria And Homocystinuria Type CblF
- Methylmalonic Aciduria And Homocystinuria, cb1L Type
- Methylmalonic Aciduria And/or Homocystinuria, CblD Type
- Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency
- Methylmalonic Aciduria, CblA Type
- Methylmalonic Aciduria, CblB Type
- Mevalonic Aciduria
- MGAT2-Congenital Disorder Of Glycosylation
- Mild Phenylketonuria
- Mitochondrial Complex 1 Deficiency, Nuclear Type 35
- Mitochondrial Complex 2 Deficiency, Nuclear Type 2
- Mitochondrial Complex 2 Deficiency, Nuclear Type 3
- Mitochondrial Complex 2 Deficiency, Nuclear Type 4
- Mitochondrial Complex 5 (ATP Synthase) Deficiency, Mitochondrial Type 1
- Mitochondrial Complex 5 (ATP Synthase) Deficiency, Nuclear Type 6
- Mitochondrial Complex I Deficiency, Mitochondrial Type
- Mitochondrial Complex I Deficiency, Mitochondrial Type 1
- Mitochondrial Complex I Deficiency, Nuclear Type
- Mitochondrial Complex I Deficiency, Nuclear Type 1
- Mitochondrial Complex I Deficiency, Nuclear Type 10
- Mitochondrial Complex I Deficiency, Nuclear Type 11
- Mitochondrial Complex I Deficiency, Nuclear Type 12
- Mitochondrial Complex I Deficiency, Nuclear Type 13
- Mitochondrial Complex I Deficiency, Nuclear Type 14
- Mitochondrial Complex I Deficiency, Nuclear Type 15
- Mitochondrial Complex I Deficiency, Nuclear Type 16
- Mitochondrial Complex I Deficiency, Nuclear Type 17
- Mitochondrial Complex I Deficiency, Nuclear Type 18
- Mitochondrial Complex I Deficiency, Nuclear Type 19
- Mitochondrial Complex I Deficiency, Nuclear Type 2
- Mitochondrial Complex I Deficiency, Nuclear Type 21
- Mitochondrial Complex I Deficiency, Nuclear Type 22
- Mitochondrial Complex I Deficiency, Nuclear Type 23
- Mitochondrial Complex I Deficiency, Nuclear Type 24
- Mitochondrial Complex I Deficiency, Nuclear Type 25
- Mitochondrial Complex I Deficiency, Nuclear Type 26
- Mitochondrial Complex I Deficiency, Nuclear Type 27
- Mitochondrial Complex I Deficiency, Nuclear Type 28
- Mitochondrial Complex I Deficiency, Nuclear Type 29
- Mitochondrial Complex I Deficiency, Nuclear Type 3
- Mitochondrial Complex I Deficiency, Nuclear Type 30
- Mitochondrial Complex I Deficiency, Nuclear Type 31
- Mitochondrial Complex I Deficiency, Nuclear Type 32
- Mitochondrial Complex I Deficiency, Nuclear Type 33
- Mitochondrial Complex I Deficiency, Nuclear Type 34
- Mitochondrial Complex I Deficiency, Nuclear Type 36
- Mitochondrial Complex I Deficiency, Nuclear Type 37
- Mitochondrial Complex I Deficiency, Nuclear Type 39
- Mitochondrial Complex I Deficiency, Nuclear Type 4
- Mitochondrial Complex I Deficiency, Nuclear Type 5
- Mitochondrial Complex I Deficiency, Nuclear Type 6
- Mitochondrial Complex I Deficiency, Nuclear Type 7
- Mitochondrial Complex I Deficiency, Nuclear Type 8
- Mitochondrial Complex I Deficiency, Nuclear Type 9
- Mitochondrial Complex II Deficiency, Nuclear Type
- Mitochondrial Complex III Deficiency Nuclear Type 1
- Mitochondrial Complex III Deficiency Nuclear Type 2
- Mitochondrial Complex III Deficiency Nuclear Type 3
- Mitochondrial Complex III Deficiency Nuclear Type 4
- Mitochondrial Complex III Deficiency Nuclear Type 5
- Mitochondrial Complex III Deficiency Nuclear Type 6
- Mitochondrial Complex III Deficiency Nuclear Type 7
- Mitochondrial Complex III Deficiency Nuclear Type 8
- Mitochondrial Complex III Deficiency Nuclear Type 9
- Mitochondrial Complex III Deficiency, Nuclear Type
- Mitochondrial Complex III Deficiency, Nuclear Type 10
- Mitochondrial Complex III Deficiency, Nuclear Type 11
- Mitochondrial Complex IV Deficiency, Nuclear Type 1
- Mitochondrial Complex IV Deficiency, Nuclear Type 10
- Mitochondrial Complex IV Deficiency, Nuclear Type 11
- Mitochondrial Complex IV Deficiency, Nuclear Type 12
- Mitochondrial Complex IV Deficiency, Nuclear Type 14
- Mitochondrial Complex IV Deficiency, Nuclear Type 15
- Mitochondrial Complex IV Deficiency, Nuclear Type 16
- Mitochondrial Complex IV Deficiency, Nuclear Type 17
- Mitochondrial Complex IV Deficiency, Nuclear Type 18
- Mitochondrial Complex IV Deficiency, Nuclear Type 19
- Mitochondrial Complex IV Deficiency, Nuclear Type 20
- Mitochondrial Complex IV Deficiency, Nuclear Type 21
- Mitochondrial Complex IV Deficiency, Nuclear Type 22
- Mitochondrial Complex IV Deficiency, Nuclear Type 23
- Mitochondrial Complex IV Deficiency, Nuclear Type 3
- Mitochondrial Complex IV Deficiency, Nuclear Type 4
- Mitochondrial Complex IV Deficiency, Nuclear Type 7
- Mitochondrial Complex IV Deficiency, Nuclear Type 8
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 4A
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 4B
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 5
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 7
- Mitochondrial Disease
- Mitochondrial DNA Depletion Syndrome
- Mitochondrial DNA Depletion Syndrome 1
- Mitochondrial DNA Depletion Syndrome 11
- Mitochondrial DNA Depletion Syndrome 12A (cardiomyopathic Type), Autosomal Dominant
- Mitochondrial DNA Depletion Syndrome 12B (cardiomyopathic Type), Autosomal Recessive
- Mitochondrial Dna Depletion Syndrome 16B (neuroophthalmic Type)
- Mitochondrial DNA Depletion Syndrome 17
- Mitochondrial DNA Depletion Syndrome 18
- Mitochondrial DNA Depletion Syndrome 19
- Mitochondrial DNA Depletion Syndrome 20 (mngie Type)
- Mitochondrial Dna Depletion Syndrome 21
- Mitochondrial DNA Depletion Syndrome 4b
- Mitochondrial DNA Depletion Syndrome 9
- Mitochondrial DNA Depletion Syndrome, Myopathic Form
- Mitochondrial DNA Maintenance Syndrome
- Mitochondrial Membrane Transport Disorder
- Mitochondrial Non-Syndromic Sensorineural Hearing Loss
- Mitochondrial Oxidative Phosphorylation Disorder
- Mitochondrial Protein Import Disorder
- Mitochondrial Pyruvate Carrier Deficiency
- Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
- Mitochondrial Substrate Carrier Disorder
- Mitochondrial Trifunctional Protein Deficiency
- Mitochondrial Trifunctional Protein Deficiency 1
- Mitochondrial Trifunctional Protein Deficiency 2
- Mitochondrially Inherited Nonsyndromic Sensorineural Deafness
- MOGS-Congenital Disorder Of Glycosylation
- Morquio Syndrome
- MPDU1-Congenital Disorder Of Glycosylation
- MPI-Congenital Disorder Of Glycosylation
- Mucolipidosis
- Mucolipidosis Type II
- Mucolipidosis Type IV
- Mucopolysaccharidosis
- Mucopolysaccharidosis Or Mucopolysaccharidosis-Like Disorder
- Mucopolysaccharidosis Type 1
- Mucopolysaccharidosis Type 2, Attenuated Form
- Mucopolysaccharidosis Type 2, Severe Form
- Mucopolysaccharidosis Type 6
- Mucopolysaccharidosis Type 6, Rapidly Progressing
- Mucopolysaccharidosis Type 6, Slowly Progressing
- Mucopolysaccharidosis Type 7
- Mucopolysaccharidosis, MPS-I-H/S
- Mucopolysaccharidosis, MPS-I-S
- Mucopolysaccharidosis, MPS-II
- Mucopolysaccharidosis, MPS-III-A
- Mucopolysaccharidosis, MPS-III-B
- Mucopolysaccharidosis, MPS-III-C
- Mucopolysaccharidosis, MPS-III-D
- Mucopolysaccharidosis, MPS-IV-A
- Mucopolysaccharidosis, MPS-IV-B
- Mucopolysaccharidosis, Type 10
- Mucopolysaccharidosis-Plus Syndrome
- Multiple Acyl-CoA Dehydrogenase Deficiency
- Multiple Acyl-CoA Dehydrogenase Deficiency, Mild Type
- Multiple Acyl-CoA Dehydrogenase Deficiency, Severe Neonatal Type
- Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
- Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
- Multiple Mitochondrial Dysfunctions Syndrome 1
- Multiple Mitochondrial Dysfunctions Syndrome 10
- Multiple Mitochondrial Dysfunctions Syndrome 2
- Multiple Mitochondrial Dysfunctions Syndrome 3
- Multiple Mitochondrial Dysfunctions Syndrome 4
- Multiple Mitochondrial Dysfunctions Syndrome 5
- Multiple Mitochondrial Dysfunctions Syndrome 6
- Multiple Mitochondrial Dysfunctions Syndrome 7
- Multiple Mitochondrial Dysfunctions Syndrome 9b
N14
- Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
- Neutral 1 Amino Acid Transport Defect
- Neutral Lipid Storage Disease
- Niemann-Pick Disease Type C, Adult Neurologic Onset
- Niemann-Pick Disease Type C, Juvenile Neurologic Onset
- Niemann-Pick Disease Type C, Late Infantile Neurologic Onset
- Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset
- Niemann-Pick Disease Type C, Severe Perinatal Form
- Niemann-Pick Disease Type E
- Niemann-Pick Disease, Type A
- Niemann-Pick Disease, Type B
- Niemann-Pick Disease, Type C
- Niemann-Pick Disease, Type C1
- Niemann-Pick Disease, Type C2
O1
P13
- PCCA-Related Propionic Acidemia
- PCCB-Related Propionic Acidemia
- PGM1-Congenital Disorder Of Glycosylation
- Phenylketonuria
- Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
- PMM2-Congenital Disorder Of Glycosylation
- Primary Hyperoxaluria, Type I
- Primary Hyperoxaluria, Type II
- Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions
- Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant 1
- Propionic Acidemia
- PSAP-Related Sphingolipidosis
- Pseudo-Hurler Polydystrophy
Q1
R1
S15
- Sanfilippo Syndrome
- SDHC-Related Mitochondrial Disease
- Sialic Acid Storage Disease, Severe Infantile Type
- Sialidosis Type 1
- SLC35A1-Congenital Disorder Of Glycosylation
- SLC35A2-Congenital Disorder Of Glycosylation
- SLC39A8-CDG
- Sphingolipidosis
- Sphingomyelin/cholesterol Lipidosis
- SRD5A3-Congenital Disorder Of Glycosylation
- SSR4-Congenital Disorder Of Glycosylation
- Striatonigral Degeneration, Infantile, Mitochondrial
- STT3A-Congenital Disorder Of Glycosylation
- STT3B-Congenital Disorder Of Glycosylation
- Succinate-Semialdehyde Dehydrogenase Deficiency
T17
- Tay-Sachs Disease
- Tay-Sachs Disease, B Variant, Adult Form
- Tay-Sachs Disease, B Variant, Infantile Form
- Tay-Sachs Disease, B Variant, Juvenile Form
- Tay-Sachs Disease, B1 Variant
- Tay-Sachs Disease, Variant AB
- Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria
- TMEM165-Congenital Disorder Of Glycosylation
- TMEM199-CDG
- Transient Neonatal Multiple Acyl-CoA Dehydrogenase Deficiency
- Transient Tyrosinemia Of The Newborn
- Triglyceride Deposit Cardiomyovasculopathy
- Triglyceride Storage Disease
- Triglyceride Storage Disease, Type 1
- Triglyceride Storage Disease, Type 2
- Tyrosinemia
- Tyrosinemia Type III
V4
W1
X1
0–911
- 2-Aminoadipic 2-Oxoadipic Aciduria
- 2-Hydroxyglutaric Aciduria
- 3-Hydroxyisobutyric Aciduria
- 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency
- 3-Methylglutaconic Aciduria
- 3-Methylglutaconic Aciduria Type 1
- 3-Methylglutaconic Aciduria Type 4
- 3-Methylglutaconic Aciduria Type 5
- 3-Methylglutaconic Aciduria Type 8
- 3-Methylglutaconic Aciduria, Type VIIA
- 4-Hydroxyphenylacetic Aciduria