List of rare metabolic disorders

List of Rare Metabolic disorders

• 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

• NIH info on List of rare metabolic disorders

List of rare metabolic disorders is a rare disease.