List of rare metabolic disorders
From WikiMD's Food, Medicine & Wellness Encyclopedia
List of Rare Metabolic disorders[edit | edit source]
- 17-alpha-hydroxylase deficiency
- 17-beta hydroxysteroid dehydrogenase 3 deficiency
- 18 Hydroxylase deficiency
- 2-Hydroxyglutaric aciduria
- 2-methyl-3-hydroxybutyric aciduria
- 2-methylbutyryl-CoA dehydrogenase deficiency
- 3 Methylcrotonyl-CoA carboxylase 1 deficiency
- 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
- 3-Hydroxyisobutyric aciduria
- 3-methylcrotonyl-CoA carboxylase deficiency
- 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)
- 5-oxoprolinase deficiency
- 6-pyruvoyl-tetrahydropterin synthase deficiency
- Abdominal obesity metabolic syndrome
- Abetalipoproteinemia
- Acatalasemia
- Aceruloplasminemia
- Acetyl CoA acetyltransferase 2 deficiency
- Acetyl-carnitine deficiency
- Acrodermatitis enteropathica
- Acromegaly
- Acute intermittent porphyria
- Adenine phosphoribosyltransferase deficiency
- Adenosine deaminase deficiency
- Adenosine monophosphate deaminase 1 deficiency
- Adenylosuccinase deficiency
- Adrenomyeloneuropathy
- Adult polyglucosan body disease
- Adult-onset citrullinemia type II
- Albinism deafness syndrome
- Albinism ocular late onset sensorineural deafness
- ALG1-CDG (CDG-Ik)
- ALG11-CDG (CDG-Ip)
- ALG12-CDG (CDG-Ig)
- ALG13-CDG
- ALG2-CDG (CDG-Ii)
- ALG3-CDG (CDG-Id)
- ALG6-CDG (CDG-Ic)
- ALG8-CDG (CDG-Ih)
- ALG9-CDG (CDG-IL)
- Alkaptonuria
- Alpers syndrome
- Alpha-1 antitrypsin deficiency
- Alpha-ketoglutarate dehydrogenase deficiency
- Alpha-mannosidosis
- Aminoacylase 1 deficiency
- Anemia due to Adenosine triphosphatase deficiency
- Anemia sideroblastic and spinocerebellar ataxia
- Apparent mineralocorticoid excess
- Arginase deficiency
- Argininosuccinic aciduria
- Aromatic L-amino acid decarboxylase deficiency
- Arthrogryposis renal dysfunction cholestasis syndrome
- Arts syndrome
- Aspartylglycosaminuria
- Ataxia with oculomotor apraxia type 1
- Ataxia with vitamin E deficiency
- Atransferrinemia
- Atypical Gaucher disease due to saposin C deficiency - See Gaucher disease
- Autoimmune polyglandular syndrome type 2
- Autosomal dominant neuronal ceroid lipofuscinosis 4B
- Autosomal dominant optic atrophy and cataract
- Autosomal dominant optic atrophy plus syndrome
- Autosomal recessive neuronal ceroid lipofuscinosis 4A - See Adult neuronal ceroid lipofuscinosis
- Autosomal recessive spastic ataxia 4
- Autosomal recessive spinocerebellar ataxia 9
- B4GALT1-CDG (CDG-IId)
- Bantu siderosis
- Barth syndrome
- Bartter syndrome
- Bartter syndrome antenatal type 1
- Bartter syndrome antenatal type 2
- Bartter syndrome type 3
- Bartter syndrome type 4
- Beta ketothiolase deficiency
- Biotin-thiamine-responsive basal ganglia disease
- Biotinidase deficiency
- Bjornstad syndrome
- Blue diaper syndrome
- Carbamoyl phosphate synthetase 1 deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Carnitine-acylcarnitine translocase deficiency
- Carnosinemia
- Central diabetes insipidus
- Cerebral folate deficiency
- Cerebrotendinous xanthomatosis
- Ceroid lipofuscinosis neuronal 1
- Chanarin-Dorfman syndrome
- Chediak-Higashi syndrome
- CHILD syndrome
- Childhood hypophosphatasia
- Childhood-onset cerebral X-linked adrenoleukodystrophy
- Cholesteryl ester storage disease
- Chondrocalcinosis 1
- Chondrocalcinosis 2
- Chondrocalcinosis due to apatite crystal deposition
- Chondrodysplasia punctata 1, X-linked recessive
- Chronic progressive external ophthalmoplegia
- Chylomicron retention disease
- Citrulline transport defect
- COG1-CDG (CDG-IIg)
- COG4-CDG (CDG-IIj)
- COG5-CDG (CDG-IIi)
- COG7-CDG (CDG-IIe)
- COG8-CDG (CDG-IIh)
- Combined oxidative phosphorylation deficiency 16
- Congenital bile acid synthesis defect, type 1
- Congenital bile acid synthesis defect, type 2
- Congenital disorder of glycosylation type I/IIX
- Congenital dyserythropoietic anemia type 2
- Congenital erythropoietic porphyria
- Congenital lactase deficiency
- Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B)
- Copper deficiency, familial benign
- CoQ-responsive OXPHOS deficiency
- Crigler Najjar syndrome, type 1
- Crigler-Najjar syndrome type 2
- Cystinosis
- Cystinosis, ocular nonnephropathic
- Cytochrome c oxidase deficiency
- D-2-hydroxyglutaric aciduria
- D-bifunctional protein deficiency
- D-glycericacidemia
- Danon disease
- DCMA syndrome
- DDOST-CDG (CDG-Ir)
- Deafness, dystonia, and cerebral hypomyelination
- Dentatorubral-pallidoluysian atrophy
- Desmosterolosis
- Diamond-Blackfan anemia
- Dicarboxylic aminoaciduria
- Dihydrolipoamide dehydrogenase deficiency
- Dihydropteridine reductase deficiency
- Dihydropyrimidinase deficiency
- Dihydropyrimidine dehydrogenase deficiency - Not a rare disease.
- Dipsogenic diabetes insipidus
- DOLK-CDG (CDG-Im)
- Dopa-responsive dystonia
- Dopamine beta hydroxylase deficiency
- Dowling-Degos disease
- DPAGT1-CDG (CDG-Ij)
- DPM1-CDG (CDG-Ie)
- DPM2-CDG
- DPM3-CDG (CDG-Io)
- Dubin-Johnson syndrome
- Encephalopathy due to prosaposin deficiency - See Sphingolipidosis
- Erythropoietic protoporphyria
- Erythropoietic uroporphyria associated with myeloid malignancy
- Ethylmalonic encephalopathy
- Fabry disease
- Familial HDL deficiency
- Familial hypocalciuric hypercalcemia type 1
- Familial hypocalciuric hypercalcemia type 2
- Familial hypocalciuric hypercalcemia type 3
- Familial LCAT deficiency
- Familial partial lipodystrophy type 2
- Fanconi Bickel syndrome
- Farber's disease
- Fatal infantile encephalomyopathy
- Fatty acid hydroxylase-associated neurodegeneration
- Fish-eye disease
- Fructose-1,6-bisphosphatase deficiency
- Fucosidosis
- Fukuyama type muscular dystrophy
- Fumarase deficiency
- Galactokinase deficiency
- Galactosialidosis
- Gamma aminobutyric acid transaminase deficiency
- Gamma-cystathionase deficiency
- Gaucher disease
- Gaucher disease - ophthalmoplegia - cardiovascular calcification - See Gaucher disease
- Gaucher disease perinatal lethal
- Gaucher disease type 1
- Gaucher disease type 2
- Gaucher disease type 3
- Gestational diabetes insipidus
- Gilbert syndrome - Not a rare disease.
- Gitelman syndrome
- Glucose transporter type 1 deficiency syndrome
- Glucose-galactose malabsorption
- Glutamate formiminotransferase deficiency
- Glutamine deficiency, congenital
- Glutaric acidemia type I
- Glutaric acidemia type II
- Glutaric acidemia type III
- Glutathione synthetase deficiency
- Glutathionuria
- Glycine N-methyltransferase deficiency
- Glycogen storage disease 8
- Glycogen storage disease type 0, liver
- Glycogen storage disease type 12
- Glycogen storage disease type 13
- Glycogen storage disease type 1A
- Glycogen storage disease type 1B
- Glycogen storage disease type 3
- Glycogen storage disease type 5
- Glycogen storage disease type 6
- Glycogen storage disease type 7
- Glycoproteinosis
- GM1 gangliosidosis type 1
- GM1 gangliosidosis type 2
- GM1 gangliosidosis type 3
- GM3 synthase deficiency
- GRACILE syndrome
- Greenberg dysplasia
- GTP cyclohydrolase I deficiency
- Guanidinoacetate methyltransferase deficiency
- Gyrate atrophy of choroid and retina
- Haim-Munk syndrome
- Hartnup disease
- Hawkinsinuria
- Hemochromatosis type 2
- Hemochromatosis type 3
- Hemochromatosis type 4
- Hepatic lipase deficiency
- Hepatoerythropoietic porphyria
- Hereditary amyloidosis
- Hereditary coproporphyria
- Hereditary folate malabsorption
- Hereditary fructose intolerance
- Hereditary hyperekplexia
- Hereditary multiple osteochondromas
- Hereditary sensory and autonomic neuropathy type 1E
- Hereditary sensory neuropathy type 1
- Hermansky Pudlak syndrome 2
- Histidinemia
- HMG CoA lyase deficiency
- Homocarnosinosis
- Homocysteinemia
- Homocystinuria due to CBS deficiency
- Homocystinuria due to MTHFR deficiency
- Hurler syndrome
- Hurler–Scheie syndrome
- Hydroxykynureninuria
- Hyper-IgD syndrome
- Hyperbetaalaninemia
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- Hyperglycerolemia
- Hyperinsulinism due to glucokinase deficiency
- Hyperinsulinism-hyperammonemia syndrome
- Hyperlipidemia type 3
- Hyperlipoproteinemia type 5
- Hyperlysinemia
- Hyperphenylalaninemia due to dehydratase deficiency
- Hyperprolinemia
- Hyperprolinemia type 2
- Hypertryptophanemia
- Hypolipoproteinemia
- Hypophosphatasia
- I cell disease
- Imerslund-Grasbeck syndrome
- Iminoglycinuria
- Inclusion body myopathy 2
- Inclusion body myopathy 3
- Infantile free sialic acid storage disease - See Free sialic acid storage disease
- Infantile neuroaxonal dystrophy
- Infantile onset spinocerebellar ataxia
- Insulin-like growth factor I deficiency
- Intrinsic factor deficiency
- Isobutyryl-CoA dehydrogenase deficiency
- Isovaleric acidemia
- Kanzaki disease
- Kearns-Sayre syndrome
- Krabbe disease atypical due to Saposin A deficiency
- L-2-hydroxyglutaric aciduria
- L-arginine:glycine amidinotransferase deficiency
- Lactate dehydrogenase A deficiency
- Lactate dehydrogenase deficiency
- Lathosterolosis
- LCHAD deficiency
- Leber hereditary optic neuropathy
- Leigh syndrome, French Canadian type
- Lesch Nyhan syndrome
- Leucine-sensitive hypoglycemia of infancy
- Leukoencephalopathy - dystonia - motor neuropathy
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
- Limb-girdle muscular dystrophy type 2I
- Limb-girdle muscular dystrophy type 2K - See Limb-girdle muscular dystrophy
- Limb-girdle muscular dystrophy type 2M - See Limb-girdle muscular dystrophy
- Limb-girdle muscular dystrophy type 2N - See Limb-girdle muscular dystrophy
- Limb-girdle muscular dystrophy type 2O - See Limb-girdle muscular dystrophy
- Limb-girdle muscular dystrophy type 2T - See Limb-girdle muscular dystrophy
- Limb-girdle muscular dystrophy, type 2C
- Lipase deficiency combined
- Lipoic acid synthetase deficiency
- Lipoid proteinosis of Urbach and Wiethe
- Lowe oculocerebrorenal syndrome
- Lysinuric protein intolerance
- Malonyl-CoA decarboxylase deficiency
- MAN1B1-CDG
- Mannose-binding lectin protein deficiency - Not a rare disease.
- Mannosidosis, beta A, lysosomal
- Maple syrup urine disease type 1A
- Maple syrup urine disease type 1B
- Maple syrup urine disease type 2
- Maternal hyperphenylalaninemia
- Maternally inherited diabetes and deafness
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Megaloblastic anemia due to dihydrofolate reductase deficiency
- Menkes disease
- Metachromatic leukodystrophy
- Metachromatic leukodystrophy due to saposin B deficiency
- Methionine adenosyltransferase deficiency
- Methylcobalamin deficiency cbl G type
- Methylmalonic acidemia with homocystinuria type cblC
- Methylmalonic acidemia with homocystinuria type cblD
- Methylmalonic acidemia with homocystinuria type cblF
- Methylmalonic acidemia with homocystinuria type cblJ
- Methylmalonic aciduria, cblA type
- Methylmalonic aciduria, cblB type
- Mevalonic aciduria
- MGAT2-CDG (CDG-IIa)
- Mild phenylketonuria
- Mitochondrial complex I deficiency
- Mitochondrial complex II deficiency
- Mitochondrial complex III deficiency
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Mitochondrial DNA-associated Leigh syndrome
- Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
- Mitochondrial myopathy with diabetes
- Mitochondrial myopathy with lactic acidosis
- Mitochondrial neurogastrointestinal encephalopathy syndrome
- Mitochondrial trifunctional protein deficiency
- MOGS-CDG (CDG-IIb)
- Mohr-Tranebjaerg syndrome
- Molybdenum cofactor deficiency
- Monogenic diabetes - Not a rare disease.
- Morquio syndrome B
- MPDU1-CDG (CDG-If)
- MPI-CDG (CDG-Ib)
- MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
- Mucolipidosis III alpha/beta
- Mucolipidosis type 4
- Mucopolysaccharidosis type II
- Mucopolysaccharidosis type III
- Mucopolysaccharidosis type IIIA
- Mucopolysaccharidosis type IIIB
- Mucopolysaccharidosis type IIIC
- Mucopolysaccharidosis type IIID
- Mucopolysaccharidosis type IVA
- Mucopolysaccharidosis type VI
- Mucopolysaccharidosis type VII
- Multiple congenital anomalies-hypotonia-seizures syndrome
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2
- Multiple endocrine neoplasia type 2B
- Multiple sulfatase deficiency
- Multiple symmetric lipomatosis
- Muscle eye brain disease
- Muscular dystrophy, congenital, megaconial type
- Muscular phosphorylase kinase deficiency
- Musculocontractural Ehlers-Danlos syndrome
- Myoclonic epilepsy with ragged red fibers
- Myoglobinuria recurrent
- N acetyltransferase deficiency
- N-acetyl-alpha-D-galactosaminidase deficiency type III
- N-acetylglutamate synthase deficiency
- NBIA/DYT/PARK-PLA2G6
- Neonatal adrenoleukodystrophy
- Neonatal hemochromatosis
- Neonatal intrahepatic cholestasis caused by citrin deficiency
- Nephrogenic diabetes insipidus
- Neu Laxova syndrome
- Neuroferritinopathy
- Neuronal ceroid lipofuscinosis 10
- Neuronal ceroid lipofuscinosis 2
- Neuronal ceroid lipofuscinosis 3
- Neuronal ceroid lipofuscinosis 5
- Neuronal ceroid lipofuscinosis 6
- Neuronal ceroid lipofuscinosis 7
- Neuronal ceroid lipofuscinosis 9
- Neuropathy ataxia retinitis pigmentosa syndrome
- Neutral lipid storage disease with myopathy
- Niemann-Pick disease type A
- Niemann-Pick disease type B
- Niemann-Pick disease type C1
- Niemann-Pick disease type C2
- Northern epilepsy
- Not otherwise specified 3-MGA-uria type
- Occipital horn syndrome
- Ocular albinism type 1
- Oculocutaneous albinism type 1
- Oculocutaneous albinism type 1B
- Oculocutaneous albinism type 2
- Oculocutaneous albinism type 3
- OPA3 defect
- Optic atrophy 1
- Ornithine transcarbamylase deficiency
- Ornithine translocase deficiency syndrome
- Orotic aciduria type 1
- Papillon Lefevre syndrome
- Parkinson disease type 9
- Paroxysmal nocturnal hemoglobinuria
- Pearson syndrome
- Pentosuria
- Permanent neonatal diabetes mellitus
- Peroxisomal biogenesis disorders
- Peroxisome disorders - Not a rare disease.
- Perrault syndrome
- Peters plus syndrome
- PGM1-CDG
- Phosphoglycerate kinase deficiency
- Phosphoglycerate mutase deficiency
- Phosphoribosylpyrophosphate synthetase deficiency
- PMM2-CDG (CDG-Ia)
- Pontocerebellar hypoplasia type 6
- Porphyria cutanea tarda
- Primary carnitine deficiency
- Primary hyperoxaluria type 1
- Primary hyperoxaluria type 2
- Primary hyperoxaluria type 3
- Primary hypomagnesemia with secondary hypocalcemia
- Progressive external ophthalmoplegia, autosomal recessive 1
- Progressive familial intrahepatic cholestasis 1
- Progressive familial intrahepatic cholestasis type 2
- Progressive familial intrahepatic cholestasis type 3
- Prolidase deficiency
- Propionic acidemia
- Pseudocholinesterase deficiency
- Pseudoneonatal adrenoleukodystrophy
- Purine nucleoside phosphorylase deficiency
- Pycnodysostosis
- Pyridoxal 5'-phosphate-dependent epilepsy
- Pyridoxine-dependent epilepsy
- Pyruvate carboxylase deficiency
- Pyruvate dehydrogenase complex deficiency
- Pyruvate dehydrogenase phosphatase deficiency
- Pyruvate kinase deficiency
- Refsum disease
- Refsum disease with increased pipecolic acidemia
- Refsum disease, infantile form
- Renal glycosuria
- Renal hypomagnesemia 2
- Renal hypomagnesemia-6
- Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
- RFT1-CDG (CDG-In)
- Rhizomelic chondrodysplasia punctata type 3 - See Rhizomelic chondrodysplasia punctata
- Rotor syndrome
- Saccharopinuria
- Salla disease - See Free sialic acid storage disease
- Sarcosinemia
- Scheie syndrome
- Schimke immunoosseous dysplasia
- Schindler disease type 1
- Schneckenbecken dysplasia
- SCOT deficiency
- Sea-Blue histiocytosis
- Sengers syndrome
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Sepiapterin reductase deficiency
- Severe combined immunodeficiency
- Short-chain acyl-CoA dehydrogenase deficiency
- Sialidosis type I
- Sialidosis, type II
- Sialuria, French type
- Sideroblastic anemia and mitochondrial myopathy
- Sitosterolemia
- Sjogren-Larsson syndrome
- SLC35A1-CDG (CDG-IIf)
- SLC35A2-CDG
- SLC35C1-CDG (CDG-IIc)
- Smith-Lemli-Opitz syndrome
- Spastic paraplegia 7
- Spinocerebellar ataxia 28
- Spinocerebellar ataxia autosomal recessive 3
- Spondylocostal dysostosis 1 - See Spondylocostal dysostosis
- Spondylocostal dysostosis 2 - See Spondylocostal dysostosis
- Spondylocostal dysostosis 3 - See Spondylocostal dysostosis
- Spondylocostal dysostosis 4 - See Spondylocostal dysostosis
- Spondylocostal dysostosis 6 - See Spondylocostal dysostosis
- Spondylodysplastic Ehlers-Danlos syndrome
- Spondyloepimetaphyseal dysplasia joint laxity
- Spondylothoracic dysostosis
- SRD5A3-CDG (CDG-Iq)
- SSR4-CDG
- Succinic semialdehyde dehydrogenase deficiency
- Tangier disease
- Tay-Sachs disease
- Thiamine responsive megaloblastic anemia syndrome
- Thiopurine S methyltranferase deficiency
- Tiglic acidemia
- TMEM165-CDG (CDG-IIk)
- Transaldolase deficiency
- Transcobalamin 1 deficiency
- Transient neonatal diabetes mellitus
- Trehalase deficiency
- Trimethylaminuria
- Triosephosphate isomerase deficiency
- Tyrosine hydroxylase deficiency
- Tyrosine-oxidase temporary deficiency
- Tyrosinemia type 1
- Tyrosinemia type 2
- Tyrosinemia type 3
- Urea cycle disorders
- Valinemia
- Variegate porphyria
- VLCAD deficiency
- Walker-Warburg syndrome
- Wilson disease
- Wolfram syndrome
- Wolman disease
- Wrinkly skin syndrome
- X-linked adrenoleukodystrophy
- X-linked Charcot-Marie-Tooth disease type 5 - See Charcot-Marie-Tooth disease
- X-linked creatine deficiency
- X-linked dominant chondrodysplasia punctata 2
- X-linked sideroblastic anemia
- Xanthinuria type 1
- Xanthinuria type 2
- Zellweger syndrome
NIH genetic and rare disease info[edit source]
List of rare metabolic disorders is a rare disease.
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