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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Metabolic disorders

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.
Is Rare Condition? Disease Name
* 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 methylglutaconic aciduria type I
* 3 methylglutaconic aciduria type IV
* 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
* 3-Hydroxyisobutyric aciduria
* 3-methylcrotonyl-CoA carboxylase deficiency
* 3-methylglutaconic aciduria type III
* 5-oxoprolinase deficiency
* 6-pyruvoyl-tetrahydropterin synthase deficiency
* Abdominal obesity metabolic syndrome
* Abetalipoproteinemia
* Acanthocytosis
* Acatalasemia
* Aceruloplasminemia
* Acetyl CoA acetyltransferase 2 deficiency
* Acetyl-carnitine deficiency
* Acquired fructose intolerance
* Acrodermatitis enteropathica
* Acromegaly
* Acute intermittent porphyria
* Adenine phosphoribosyltransferase deficiency
* Adenosine deaminase deficiency
* Adenosine monophosphate deaminase 1 deficiency
* Adenylosuccinase deficiency
* Adrenoleukodystrophy X-linked
* Adrenomyeloneuropathy
* Adult-onset citrullinemia type II
* AGAT deficiency
* Albinism deafness syndrome
* Albinism ocular late onset sensorineural deafness
* Alkaptonuria
* Alpers syndrome
* Alpha 1-antitrypsin deficiency
* Alpha mannosidosis type 2
* Alpha-ketoglutarate dehydrogenase deficiency
* Alpha-mannosidosis type 1
* Aminoacylase 1 deficiency
* Amish infantile epilepsy syndrome
* Anemia due to Adenosine triphosphatase deficiency
* Apparent mineralocorticoid excess
* Arakawa's syndrome 2
* Argininosuccinic aciduria
* Aromatic amino acid decarboxylase deficiency
* Aspartylglycosaminuria
* Ataxia with vitamin E deficiency
* Atransferrinemia
* Autoimmune polyglandular syndrome type 2
* Autosomal dominant neuronal ceroid lipofuscinosis 4B
* Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy
* Bantu siderosis
* Barth syndrome
* Bartter syndrome
* Bartter syndrome antenatal type 1
* Bartter syndrome antenatal type 2
* Bartter syndrome type 3
* Bartter syndrome type 4
* Basal ganglia disease, biotin-responsive
* Beta ketothiolase deficiency
* Bile acid synthesis defect, congenital, 1
* Bile acid synthesis defect, congenital, 2
* Bjornstad syndrome
* Blue diaper syndrome
* Carbamoyl phosphate synthetase 1 deficiency
* Carnitine palmitoyl transferase 1 deficiency
* Carnitine palmitoyltransferase I deficiency , muscle
* Carnitine-acylcarnitine translocase deficiency
* Carnosinemia
* Cataract and cardiomyopathy
* Cerebral folate deficiency
* Cerebrotendinous xanthomatosis
* Ceroid lipofuscinosis neuronal 1
* Ceroid lipofuscinosis neuronal 10
* Ceroid lipofuscinosis neuronal 2
* Ceroid lipofuscinosis neuronal 5
* Ceroid lipofuscinosis neuronal 6
* Ceroid lipofuscinosis neuronal 7
* Ceroid lipofuscinosis neuronal 9
* Chanarin-Dorfman syndrome
* Chediak-Higashi syndrome
* CHILD syndrome
* Cholestasis, progressive familial intrahepatic 2
* Cholestasis, progressive familial intrahepatic 3
* Chondrocalcinosis 1
* Chondrocalcinosis 2
* Chondrocalcinosis due to apatite crystal deposition
* Chondrodysplasia punctata 1, X-linked recessive
* Chondrodysplasia punctata 2 X-linked dominant
* Chylomicron retention disease
* Citrulline transport defect
* Congenital disorder of glycosylation type 1A
* Congenital disorder of glycosylation type 1B
* Congenital disorder of glycosylation type 2B
* Congenital disorder of glycosylation type 2C
* Congenital disorder of glycosylation type I/IIX
* Congenital dyserythropoietic anemia type 2
* Congenital porphyria
* Copper deficiency, familial benign
* CoQ-responsive OXPHOS deficiency
* Crigler Najjar syndrome, type 1
* Crigler Najjar syndrome, type 2
* Cystinosis
* Cystinosis, ocular nonnephropathic
* D-2-alpha hydroxyglutaric aciduria
* D-glycericacidemia
* Danon disease
* Dentatorubral-pallidoluysian atrophy
* Desmosterolosis
* Diamond-Blackfan anemia
* Dicarboxylic aminoaciduria
* Dihydropteridine reductase deficiency
* Dihydropyrimidine dehydrogenase deficiency
* Dipsogenic diabetes insipidus
* Dopamine beta hydroxylase deficiency
* Dubin-Johnson syndrome
* Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
* Ehlers-Danlos syndrome progeroid type
* Encephalomyopathy
* Erythropoietic protoporphyria
* Ethylmalonic encephalopathy
* Fabry disease
* Familial HDL deficiency
* Familial hyperlipo-proteinemia type 1
* Familial hypocalciuric hypercalcemia type 1
* Familial hypocalciuric hypercalcemia type 2
* Familial hypocalciuric hypercalcemia type 3
* Familial juvenile hyperuricaemic nephropathy
* Fanconi Bickel syndrome
* Farber's disease
* 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 perinatal lethal
* Gaucher disease type 1
* Gaucher disease type 2
* Gaucher disease type 3
* Gestational diabetes insipidus
*   Gilbert syndrome
* Gitelman syndrome
* Glucose transporter type 1 deficiency syndrome
* Glucose-galactose malabsorption
* Glutamate formiminotransferase deficiency
* Glutaric acidemia type I
* Glutaric acidemia type II
* Glutathione synthetase deficiency
* Glutathionuria
* Glycogen storage disease 8
* Glycogen storage disease type 0
* 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
* Glycosylphosphatidylinositol deficiency
* GM1 gangliosidosis type 1
* GM1 gangliosidosis type 2
* GM1 gangliosidosis type 3
* Gonadal dysgenesis, XX type
* GRACILE syndrome
* GTP cyclohydrolase I deficiency
* Guanidinoacetate methyltransferase deficiency
* Haim-Munk syndrome
* Hartnup disease
* Hawkinsinuria
* Hemochromatosis type 2
* Hemochromatosis type 3
* Hepatoerythropoietic porphyria
* Hereditary amyloidosis
* Hereditary coproporphyria
* Hereditary fructose intolerance
* Hereditary multiple osteochondromas
* Hereditary orotic aciduria without megaloblastic anaemia
* Hermansky Pudlak syndrome 2
* Histidinemia
* HMG CoA lyase deficiency
* Homocarnosinosis
* Homocysteinemia
* Homocysteinemia due to MTHFR deficiency
* Homocystinuria due to CBS deficiency
* Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
* Hydroxykynureninuria
* Hyper-IgD syndrome
* Hyperbetaalaninemia
* Hyperglycerolemia
* Hyperinsulinism due to glucokinase deficiency
* Hyperinsulinism-hyperammonemia syndrome
* Hyperlipoproteinemia type 1
* Hyperlipoproteinemia type 5
* Hyperlysinemia
* Hyperphenylalaninemia due to dehydratase deficiency
* Hyperpipecolatemia
* Hyperprolinemia
* Hyperprolinemia type 2
* Hypertryptophanemia
* Hypolipoproteinemia
* Hypophosphatasia
* Hypophosphatasia childhood
* I cell disease
* Imerslund-Grasbeck syndrome
* Iminoglycinuria
* Inclusion body myopathy 2
* Inclusion body myopathy 3
* Infantile free sialic acid storage disease
* Infantile onset spinocerebellar ataxia
* Insulin-like growth factor I deficiency
* Intrinsic factor deficiency
* Isobutyryl-CoA dehydrogenase deficiency
* Isovaleric acidemia
* Kanzaki disease
* Kearns Sayre syndrome
* Konigsmark Knox Hussels syndrome
* Krabbe disease atypical due to Saposin A deficiency
* L-2-hydroxyglutaric aciduria
* 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
* Limb-girdle muscular dystrophy, type 2C
* Lipase deficiency combined
* Lipodystrophy, familial partial, type 2
* Lipoid proteinosis of Urbach and Wiethe
* Lowe oculocerebrorenal syndrome
* Lysinuric protein intolerance
* Madelung disease
* Malonyl-CoA decarboxylase deficiency
*   Mannose-binding lectin protein deficiency
* 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
* Maternally inherited Leigh syndrome
* Medium-chain acyl-coenzyme A dehydrogenase deficiency
* Menkes disease
* Metachromatic leukodystrophy
* Metachromatic leukodystrophy due to saposin B deficiency
* Methionine adenosyltransferase deficiency
* Methylcobalamin deficiency cbl G type
* Methylmalonic aciduria with homocystinuria cbl f
* Mevalonic aciduria
* Mitochondrial complex I deficiency
* Mitochondrial complex II deficiency
* Mitochondrial complex III deficiency
* Mitochondrial complex IV deficiency
* 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
* Molybdenum cofactor deficiency
*   Monogenic diabetes
* Morquio syndrome A
* Morquio syndrome B
* Morquio syndrome C
* Mucolipidosis III alpha/beta
* Mucopolysaccharidosis type II
* Mucopolysaccharidosis type IIIA
* Mucopolysaccharidosis type IIIB
* Mucopolysaccharidosis type IIIC
* Mucopolysaccharidosis type VI
* Mucopolysaccharidosis type VII
* Multiple endocrine neoplasia type 2B
* Multiple sulfatase deficiency
* Muscle eye brain disease
* Muscular phosphorylase kinase deficiency
* Myoclonus with epilepsy with ragged red fibers
* Myoglobinuria recurrent
* N acetyltransferase deficiency
* N-acetyl-alpha-D-galactosaminidase deficiency type III
* N-acetylglutamate synthetase deficiency
* Neonatal adrenoleukodystrophy
* Neonatal hemochromatosis
* Nephrogenic diabetes insipidus
* Neuroaxonal dystrophy, infantile
* Neuroferritinopathy
* Neurogenic diabetes insipidus
* Neuropathy ataxia retinitis pigmentosa syndrome
* Neutral lipid storage disease with myopathy
* Niemann-Pick disease type B
* Northern Epilepsy
* Norum disease
* Occipital horn syndrome
* Ocular albinism type 1
* Oculocutaneous albinism type 1
* Oculocutaneous albinism type 1B
* Oculocutaneous albinism type 2
* Oculocutaneous albinism type 3
* Optic atrophy 1
* Optic atrophy and cataract, autosomal dominant
* 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
* Peroxisome biogenesis disorders
*   Peroxisome disorders
* Peters plus syndrome
* Phosphoglycerate kinase deficiency
* Phosphoglycerate mutase deficiency
* Phosphoribosylpyrophosphate synthetase deficiency
* Polyglucosan body disease, adult
* Pontocerebellar hypoplasia type 6
* Porphyria cutanea tarda
* Primary carnitine deficiency
* Primary hyperoxaluria type 1
* Primary hyperoxaluria type 2
* Primary hyperoxaluria type 3
* Prolidase deficiency
* Propionic acidemia
* Pseudocholinesterase deficiency
* Pseudoneonatal adrenoleukodystrophy
* Purine nucleoside phosphorylase deficiency
* Pycnodysostosis
* Pyridoxal 5'-phosphate-dependent epilepsy
* Pyruvate carboxylase deficiency
* Pyruvate dehydrogenase deficiency
* Pyruvate dehydrogenase phosphatase deficiency
* Pyruvate kinase deficiency
* Refsum disease
* Refsum disease with increased pipecolic acidemia
* Refsum disease, infantile form
* Renal glycosuria
* Rhizomelic chondrodysplasia punctata, type 3
* Rotor syndrome
* Saccharopinuria
* Salla disease
* Sarcosinemia
* Schimke immunoosseous dysplasia
* Schindler disease, type 1
* Schneckenbecken dysplasia
* SCOT deficiency
* Sea-Blue histiocytosis
* Segawa syndrome, autosomal recessive
* 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
* Smith-Lemli-Opitz syndrome
* Spastic paraplegia 7
* Spinocerebellar ataxia 28
* Spinocerebellar ataxia autosomal recessive 3
* Spondylocostal dysostosis 1
* Spondyloepimetaphyseal dysplasia joint laxity
* Succinic acidemia
* Succinic semialdehyde dehydrogenase deficiency
* Tangier disease
* Tay-Sachs disease
* Thiamine responsive megaloblastic anemia syndrome
* Thiopurine S methyltranferase deficiency
* Tiglic acidemia
* Transaldolase deficiency
* Transcobalamin 1 deficiency
* Transient neonatal diabetes mellitus
* Trehalase deficiency
* Trimethylaminuria
* Triose phosphate-isomerase 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
* Wrinkly skin syndrome
* X-linked Charcot-Marie-Tooth disease type 5
* X-linked creatine deficiency
* Xanthinuria type 2
* Zellweger syndrome