Inborn errors of metabolism

Part of

Sub-types of Inborn errors of metabolism

• Inherited lipid metabolism disorder 201 trials · 644 incl. sub-types
  29 sub-types

  • Lysosomal lipid storage disorder 2 trials · 192 incl. sub-types Sub-types →
  • Familial hyperlipidemia 8 trials · 130 incl. sub-types Sub-types →
  • Syndromic dyslipidemia 0 trials · 73 incl. sub-types Sub-types →
  • Sterol metabolism disorder 0 trials · 60 incl. sub-types Sub-types →
  • Steroid inherited metabolic disorder 0 trials · 39 incl. sub-types Sub-types →
  • Inherited fatty acid metabolism disorder 7 trials · 21 incl. sub-types Sub-types →
  • Disorder of phospholipids, sphingolipids and fatty acids biosynthesis 0 trials · 15 incl. sub-types Sub-types →
  • Hypolipoproteinemia 2 trials · 7 incl. sub-types Sub-types →
  • Glucocorticoid resistance 3 trials
  • Mitochondrial trifunctional protein deficiency 3 trials Sub-types →
  • Vitamin D hydroxylation-deficient rickets, type 1B 3 trials
  • 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 2 trials
  • CYP7B1-related disorder of oxysterol accumulation 0 trials · 2 incl. sub-types Sub-types →
  • Disorder of plasmalogens biosynthesis 0 trials · 2 incl. sub-types Sub-types →
  • Disorder of sphingolipid biosynthesis 1 trial
  • Inborn disorder of ketolysis 0 trials · 1 incl. sub-types Sub-types →
  • Corticosterone methyloxidase type 1 deficiency 0 trials
  • Cortisone reductase deficiency 0 trials Sub-types →
  • Developmental and epileptic encephalopathy, 55 0 trials
  • Developmental and epileptic encephalopathy, 77 0 trials
  • Developmental and epileptic encephalopathy, 80 0 trials
  • Glycosylphosphatidylinositol biosynthesis defect 15 0 trials
  • Glycosylphosphatidylinositol biosynthesis defect 16 0 trials
  • Glycosylphosphatidylinositol biosynthesis defect 17 0 trials
  • Glycosylphosphatidylinositol biosynthesis defect 18 0 trials
  • Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 0 trials Sub-types →
  • Lipoid proteinosis 0 trials
  • Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 0 trials
  • Pancreatic triacylglycerol lipase deficiency 0 trials Sub-types →
• Inborn carbohydrate metabolic disorder 3 trials · 369 incl. sub-types
  18 sub-types

  • Disorder of carbohydrate transmembrane transport and absorption 0 trials · 162 incl. sub-types Sub-types →
  • Disorder of glycogen metabolism 15 trials · 69 incl. sub-types Sub-types →
  • Mucopolysaccharidosis 14 trials · 61 incl. sub-types Sub-types →
  • Disorder of glycolysis 1 trial · 27 incl. sub-types Sub-types →
  • Primary hyperoxaluria 13 trials · 17 incl. sub-types Sub-types →
  • Hyperinsulinemic hypoglycemia 2 trials · 14 incl. sub-types Sub-types →
  • Oligosaccharidosis 0 trials · 11 incl. sub-types Sub-types →
  • Lactose intolerance 9 trials · 10 incl. sub-types Sub-types →
  • G6PD deficiency 6 trials Sub-types →
  • GLUT1 deficiency syndrome 4 trials · 5 incl. sub-types Sub-types →
  • Disorder of galactose metabolism 0 trials · 5 incl. sub-types Sub-types →
  • Disorder of galactose and fructose metabolism 0 trials · 4 incl. sub-types Sub-types →
  • Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types Sub-types →
  • Multiple carboxylase deficiency 0 trials · 3 incl. sub-types Sub-types →
  • Congenital disorder of deglycosylation 1 2 trials
  • Disorder of fructose metabolism 0 trials · 1 incl. sub-types Sub-types →
  • Disorder of gluconeogenesis 0 trials · 1 incl. sub-types Sub-types →
  • Disorders of pentose/polyol metabolism 0 trials · 1 incl. sub-types Sub-types →
• Abdominal obesity-metabolic syndrome 301 trials · 357 incl. sub-types
  5 sub-types

  • Metabolic syndrome X 338 trials
  • LIPE-related familial partial lipodystrophy 0 trials
  • Abdominal obesity-metabolic syndrome 3 0 trials
  • Abdominal obesity-metabolic syndrome 4 0 trials
  • Abdominal obesity-metabolic syndrome quantitative trait locus 2 0 trials
• Lysosomal storage disease 37 trials · 302 incl. sub-types
  11 sub-types

  • Lysosomal lipid storage disorder 2 trials · 192 incl. sub-types Sub-types →
  • Mucopolysaccharidosis 14 trials · 61 incl. sub-types Sub-types →
  • Lysosomal glycogen storage disease 0 trials · 45 incl. sub-types Sub-types →
  • Inborn disorder of lysosomal amino acid transport 0 trials · 15 incl. sub-types Sub-types →
  • Glycoproteinosis 0 trials · 14 incl. sub-types Sub-types →
  • Late infantile neuronal ceroid lipofuscinosis 1 trial · 5 incl. sub-types Sub-types →
  • Disorder of sialic acid metabolism 0 trials · 1 incl. sub-types Sub-types →
  • Glycoprotein storage disease 0 trials
  • Hereditary spastic paraplegia 48 0 trials
  • Lysosomal acid phosphatase deficiency 0 trials
  • Pycnodysostosis 0 trials
• Inborn disorder of energy metabolism 2 trials · 235 incl. sub-types
  6 sub-types

  • Inborn mitochondrial metabolism disorder 59 trials · 127 incl. sub-types Sub-types →
  • Disorder of glycogen metabolism 15 trials · 69 incl. sub-types Sub-types →
  • Pyruvate metabolism disorder 0 trials · 31 incl. sub-types Sub-types →
  • Disorder of fatty acid and ketone body metabolism 3 trials · 19 incl. sub-types Sub-types →
  • Cerebral creatine deficiency syndrome 0 trials · 6 incl. sub-types Sub-types →
  • Tricarboxylic acid cycle disorder 0 trials · 2 incl. sub-types Sub-types →
• Inborn disorder of amino acid and other organic acid metabolism 0 trials · 225 incl. sub-types
  13 sub-types

  • Inborn disorder of amino acid metabolism 6 trials · 159 incl. sub-types Sub-types →
  • Pyruvate metabolism disorder 0 trials · 31 incl. sub-types Sub-types →
  • Inherited fatty acid metabolism disorder 7 trials · 21 incl. sub-types Sub-types →
  • Disorder of melanin metabolism 0 trials · 15 incl. sub-types Sub-types →
  • Inborn disorder of bile acid synthesis 2 trials · 12 incl. sub-types Sub-types →
  • Inborn disorder of methionine cycle and sulfur amino acid metabolism 0 trials · 11 incl. sub-types Sub-types →
  • Inborn disorder of ornithine or proline metabolism 0 trials · 4 incl. sub-types Sub-types →
  • Inborn error of biotin metabolism 0 trials · 3 incl. sub-types Sub-types →
  • Inborn disorder of serine family metabolism 0 trials · 1 incl. sub-types Sub-types →
  • Inborn disorder of the gamma-glutamyl cycle 0 trials · 1 incl. sub-types Sub-types →
  • Disorder of beta and omega amino acid metabolism 0 trials Sub-types →
  • Disorder of glutamine metabolism 0 trials Sub-types →
  • Inborn disorder of lysine and hydroxylysine metabolism 0 trials Sub-types →
• Waldenstrom macroglobulinemia 136 trials
  2 sub-types

  • Macroglobulinemia, Waldenstrom, 1 2 trials
  • Macroglobulinemia, Waldenstrom, 2 0 trials
• DNA repair disease 13 trials · 105 incl. sub-types
  16 sub-types

  • Fanconi anemia 29 trials · 42 incl. sub-types Sub-types →
  • Mismatch repair cancer syndrome 5 trials · 36 incl. sub-types Sub-types →
  • Cockayne syndrome 6 trials Sub-types →
  • Xeroderma pigmentosum 4 trials · 6 incl. sub-types Sub-types →
  • Severe combined immunodeficiency due to DCLRE1C deficiency 3 trials
  • Karyomegalic interstitial nephritis 2 trials
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 0 trials · 2 incl. sub-types Sub-types →
  • COFS syndrome 1 trial Sub-types →
  • Nijmegen breakage syndrome 1 trial
  • Nijmegen breakage syndrome-like disorder 0 trials
  • UV-sensitive syndrome 0 trials Sub-types →
  • Ataxia and polyneuropathy, adult-onset 0 trials
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 0 trials
  • Ataxia-telangiectasia-like disorder 1 0 trials
  • Ataxia-telangiectasia-like disorder 2 0 trials
  • Photosensitive trichothiodystrophy 0 trials Sub-types →
• Hereditary amyloidosis 19 trials · 79 incl. sub-types
  9 sub-types

  • Familial amyloid neuropathy 52 trials · 54 incl. sub-types Sub-types →
  • Cerebral amyloid angiopathy 16 trials · 17 incl. sub-types Sub-types →
  • APP-related brain and vascular amyloidosis 0 trials · 5 incl. sub-types Sub-types →
  • Familial primary localized cutaneous amyloidosis 1 trial Sub-types →
  • Finnish type amyloidosis 0 trials
  • ITM2B amyloidosis 0 trials Sub-types →
  • Familial visceral amyloidosis 0 trials Sub-types →
  • Pulmonary amyloidosis 0 trials
  • Variant ABeta2M amyloidosis 0 trials
• Inborn disorder of porphyrin metabolism 0 trials · 63 incl. sub-types
  4 sub-types

  • Inborn disorder of bilirubin metabolism 0 trials · 39 incl. sub-types Sub-types →
  • Inherited porphyria 0 trials · 24 incl. sub-types Sub-types →
  • X-linked sideroblastic anemia 1 0 trials
  • Heme oxygenase 1 deficiency 0 trials
• Mucopolysaccharidosis or mucopolysaccharidosis-like disorder 0 trials · 61 incl. sub-types
  2 sub-types

  • Mucopolysaccharidosis 14 trials · 61 incl. sub-types Sub-types →
  • Mucopolysaccharidosis-plus syndrome 0 trials
• Inborn metal metabolism disorder 1 trial · 60 incl. sub-types
  9 sub-types

  • Wilson disease 31 trials
  • Pseudohypoparathyroidism 8 trials · 9 incl. sub-types Sub-types →
  • Hereditary hemochromatosis 8 trials Sub-types →
  • Menkes disease 5 trials
  • Familial primary hypomagnesemia 5 trials Sub-types →
  • Acrodermatitis enteropathica 2 trials
  • Atransferrinemia 1 trial
  • Familial periodic paralysis 0 trials · 1 incl. sub-types Sub-types →
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency 0 trials · 1 incl. sub-types Sub-types →
• Disorder of metabolite absorption and transport 0 trials · 59 incl. sub-types
  3 sub-types

  • Disorder of mineral absorption and transport 0 trials · 50 incl. sub-types Sub-types →
  • Disorder of vitamin and non-protein cofactor absorption and transport 0 trials · 10 incl. sub-types Sub-types →
  • Maternal riboflavin deficiency 0 trials
• Inborn disorder of purine or pyrimidine metabolism 1 trial · 50 incl. sub-types
  4 sub-types

  • Disorder of glycolysis 1 trial · 27 incl. sub-types Sub-types →
  • Inborn disorder of purine metabolism 0 trials · 14 incl. sub-types Sub-types →
  • Inborn disorder of pyrimidine metabolism 0 trials · 11 incl. sub-types Sub-types →
  • Phosphoribosylpyrophosphate synthetase deficiency 0 trials
• Plasma protein metabolism disease 0 trials · 47 incl. sub-types
  3 sub-types

  • Alpha 1-antitrypsin deficiency 44 trials
  • Monoclonal paraproteinemia disease 2 trials
  • Polyclonal hypergammaglobulinemia 1 trial
• Peroxisomal disease 2 trials · 38 incl. sub-types
  4 sub-types

  • Peroxisomal single enzyme/protein defect 0 trials · 35 incl. sub-types Sub-types →
  • Peroxisome biogenesis disorder 4 trials · 8 incl. sub-types Sub-types →
  • CADDS 0 trials
  • Disorder of defective peroxisomal and mitochondrial fission 0 trials Sub-types →
• Congenital disorder of glycosylation 7 trials · 36 incl. sub-types
  25 sub-types

  • Disorder of protein O-glycosylation 0 trials · 13 incl. sub-types Sub-types →
  • Disorder of multiple glycosylation 0 trials · 9 incl. sub-types Sub-types →
  • Congenital disorder of glycosylation type I 0 trials · 7 incl. sub-types Sub-types →
  • Disorder of protein N-glycosylation 0 trials · 7 incl. sub-types Sub-types →
  • Congenital disorder of glycosylation type II 0 trials · 3 incl. sub-types Sub-types →
  • Autosomal recessive limb-girdle muscular dystrophy type 2P 1 trial
  • A4GALT-congenital disorder of glycosylation 0 trials
  • ALG10-congenital disorder of glycosylation 0 trials
  • ALG14-congenital disorder of glycosylation 0 trials Sub-types →
  • B3GALT6-congenital disorder of glycosylation 0 trials Sub-types →
  • Ehlers-Danlos syndrome, musculocontractural type 0 trials Sub-types →
  • FAM20B-congenital disorder of glycosylation 0 trials
  • Larsen-like syndrome, B3GAT3 type 0 trials
  • SLC10A7-congenital disorder of glycosylation 0 trials
  • XYLT1-congenital disorder of glycosylation 0 trials
  • Congenital disorder of glycosylation syndrome type 4 0 trials
  • Congenital disorder of glycosylation with defective fucosylation 0 trials Sub-types →
  • Congenital disorder of glycosylation, type 1DD 0 trials
  • Congenital disorder of glycosylation, type Ibb 0 trials
  • Congenital disorder of glycosylation, type Iw, autosomal dominant 0 trials
  • Congenital muscular dystrophy with intellectual disability 0 trials
  • Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 0 trials Sub-types →
  • Progressive myoclonic epilepsy type 3 0 trials
  • Seizures-scoliosis-macrocephaly syndrome 0 trials
  • Temtamy preaxial brachydactyly syndrome 0 trials
• Monogenic diabetes 9 trials · 24 incl. sub-types
  2 sub-types

  • Maturity-onset diabetes of the young 8 trials · 13 incl. sub-types Sub-types →
  • Neonatal diabetes mellitus 3 trials · 6 incl. sub-types Sub-types →
• Glycoprotein metabolism disease 1 trial · 23 incl. sub-types
  3 sub-types

  • Disorder of protein O-glycosylation 0 trials · 13 incl. sub-types Sub-types →
  • Disorder of protein N-glycosylation 0 trials · 7 incl. sub-types Sub-types →
  • Congenital disorder of deglycosylation 1 2 trials
• Hereditary lipodystrophy 2 trials · 17 incl. sub-types
  11 sub-types

  • Familial partial lipodystrophy 13 trials · 14 incl. sub-types Sub-types →
  • Congenital generalized lipodystrophy 2 trials · 3 incl. sub-types Sub-types →
  • Berardinelli-Seip congenital lipodystrophy 0 trials · 1 incl. sub-types Sub-types →
  • Keppen-Lubinsky syndrome 0 trials
  • SHORT syndrome 0 trials
  • Wiedemann-Rautenstrauch syndrome 0 trials
  • Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy 0 trials
  • Lipodystrophy due to peptidic growth factors deficiency 0 trials
  • Lipodystrophy-intellectual disability-deafness syndrome 0 trials
  • Mandibuloacral dysplasia 0 trials Sub-types →
  • Severe neurodegenerative syndrome with lipodystrophy 0 trials
• Familial intrahepatic cholestasis 1 trial · 17 incl. sub-types
  4 sub-types

  • Progressive familial intrahepatic cholestasis 16 trials · 17 incl. sub-types Sub-types →
  • Benign recurrent intrahepatic cholestasis 2 trials · 5 incl. sub-types Sub-types →
  • Cholestasis, intrahepatic, of pregnancy, 1 0 trials
  • Cholestasis, intrahepatic, of pregnancy, 3 0 trials
• Disorder of lysosomal-related organelles 0 trials · 17 incl. sub-types
  5 sub-types

  • Chediak-Higashi syndrome 9 trials
  • Papillon-Lefevre disease 5 trials
  • Hermansky-Pudlak syndrome 4 trials Sub-types →
  • Haim-Munk syndrome 0 trials
  • Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN 0 trials
• Hypophosphatasia 13 trials
  8 sub-types

  • ALPL-related autosomal dominant hypophosphatasia 0 trials Sub-types →
  • ALPL-related autosomal recessive hypophosphatasia 0 trials Sub-types →
  • Adult hypophosphatasia 0 trials
  • Childhood hypophosphatasia 0 trials
  • Infantile hypophosphatasia 0 trials
  • Moderate hypophosphatasia 0 trials
  • Odontohypophosphatasia 0 trials
  • Prenatal benign hypophosphatasia 0 trials
• Familial hypoparathyroidism 0 trials · 10 incl. sub-types
  3 sub-types

  • Autosomal dominant hypocalcemia 9 trials · 10 incl. sub-types Sub-types →
  • Hypoparathyroidism, familial isolated 1 0 trials Sub-types →
  • Hypoparathyroidism, familial isolated, 2 0 trials
• Inborn disorder of biogenic amine metabolism and transport 0 trials · 10 incl. sub-types
  3 sub-types

  • Inborn disorder of neurotransmitter metabolism and transport 0 trials · 4 incl. sub-types Sub-types →
  • Inborn disorder of pyridoxine metabolism 0 trials · 4 incl. sub-types Sub-types →
  • Metabolic disease involving other neurotransmitter deficiency 0 trials · 3 incl. sub-types Sub-types →
• Neurodegeneration with brain iron accumulation 1 trial · 8 incl. sub-types
  14 sub-types

  • Neurodegeneration with brain iron accumulation 5 4 trials
  • Pantothenate kinase-associated neurodegeneration 4 trials Sub-types →
  • PLA2G6-associated neurodegeneration 1 trial Sub-types →
  • Kufor-Rakeb syndrome 0 trials Sub-types →
  • Woodhouse-Sakati syndrome 0 trials
  • Aceruloplasminemia 0 trials
  • Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome 0 trials
  • Fatty acid hydroxylase-associated neurodegeneration 0 trials
  • Neurodegeneration with brain iron accumulation 4 0 trials
  • Neurodegeneration with brain iron accumulation 6 0 trials
  • Neurodegeneration with brain iron accumulation 7 0 trials
  • Neurodegeneration with brain iron accumulation 8 0 trials
  • Neurodegeneration with brain iron accumulation 9 0 trials
  • Neuroferritinopathy 0 trials
• Inherited thyroid metabolism disease 0 trials · 8 incl. sub-types
  2 sub-types

  • Familial thyroid dyshormonogenesis 1 trial · 4 incl. sub-types Sub-types →
  • Thyroid hormone resistance syndrome 3 trials · 4 incl. sub-types Sub-types →
• Inborn vitamin metabolic disorder 0 trials · 7 incl. sub-types
  5 sub-types

  • Disorders of vitamin D metabolism 0 trials · 3 incl. sub-types Sub-types →
  • Inborn disorder of cobalamin metabolism and transport 1 trial · 3 incl. sub-types Sub-types →
  • Cerebral folate deficiency 1 trial
  • Familial isolated deficiency of vitamin E 1 trial
  • Neurodegenerative syndrome due to cerebral folate transport deficiency 1 trial
• Inborn aminoacylase deficiency 0 trials · 6 incl. sub-types
  2 sub-types

  • Canavan disease 6 trials Sub-types →
  • Aminoacylase 1 deficiency 0 trials
• Disorder of peptide and amine metabolism 0 trials · 4 incl. sub-types
  4 sub-types

  • Disorder of methylamine metabolism 0 trials · 2 incl. sub-types Sub-types →
  • Disorder of polyamine metabolism 0 trials · 1 incl. sub-types Sub-types →
  • Inherited glutathione metabolism disease 0 trials · 1 incl. sub-types Sub-types →
  • Inborn disorder of peptide metabolism 0 trials Sub-types →
• Diastrophic dysplasia 2 trials
• Hypercalcemia, infantile 2 trials
  2 sub-types

  • Hypercalcemia, infantile, 1 0 trials
  • Hypercalcemia, infantile, 2 0 trials
• Hypoalphalipoproteinemia, primary, 1 2 trials
• Congenital disorder of deglycosylation 0 trials · 2 incl. sub-types
  2 sub-types

  • Congenital disorder of deglycosylation 1 2 trials
  • Congenital disorder of deglycosylation 2 0 trials
• Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 trial
• Diabetes mellitus, noninsulin-dependent, 1 1 trial
• Diabetes mellitus, noninsulin-dependent, 2 1 trial
• Fish eye disease 1 trial
• 2-hydroxyglutaric aciduria 0 trials · 1 incl. sub-types
  3 sub-types

  • D,L-2-hydroxyglutaric aciduria 1 trial
  • D-2-hydroxyglutaric aciduria 0 trials Sub-types →
  • L-2-hydroxyglutaric aciduria 0 trials
• Familial hypocalciuric hypercalcemia 0 trials · 1 incl. sub-types
  3 sub-types

  • Familial hypocalciuric hypercalcemia 1 1 trial
  • Familial hypocalciuric hypercalcemia 2 0 trials
  • Familial hypocalciuric hypercalcemia 3 0 trials
• Hereditary recurrent myoglobinuria 0 trials · 1 incl. sub-types
  2 sub-types

  • Myoglobinuria, acute recurrent, autosomal recessive 1 trial
  • Myoglobinuria, recurrent 0 trials
• Thiopurine metabolic disease 0 trials · 1 incl. sub-types
  1 sub-type

  • Thiopurine S-methyltransferase deficiency 1 trial
• 4-hydroxyphenylacetic aciduria 0 trials
• 5-nucleotidase syndrome 0 trials
• APO A-i deficiency 0 trials
• CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis 0 trials
• Ehlers-Danlos syndrome, spondylodysplastic type 0 trials
  3 sub-types

  • Ehlers-Danlos syndrome, spondylocheirodysplastic type 0 trials
  • Ehlers-Danlos syndrome, spondylodysplastic type, 1 0 trials
  • Ehlers-Danlos syndrome, spondylodysplastic type, 2 0 trials
• Lane Hamilton syndrome 0 trials
• NAD(P)HX dehydratase deficiency 0 trials
• SQSTM1-related multisystem proteinopathy 0 trials
  3 sub-types

  • Paget disease of bone 3 0 trials
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0 trials
  • Myopathy, distal, with rimmed vacuoles 0 trials
• Achondrogenesis type IB 0 trials
• Antigen-peptide-transporter 2 deficiency 0 trials
• Apolipoprotein c-III deficiency 0 trials
• Aromatase excess syndrome 0 trials
• Atelosteogenesis type II 0 trials
• Autosomal dominant dopa-responsive dystonia 0 trials
  2 sub-types

  • Dystonia 5 0 trials
  • Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0 trials Sub-types →
• Autosomal dominant myoglobinuria 0 trials
• Autosomal dominant proximal renal tubular acidosis 0 trials
• Autosomal recessive proximal renal tubular acidosis 0 trials
• Cardiomyopathy hypogonadism metabolic anomalies 0 trials
• Chondrocalcinosis 2 0 trials
• Chondrodysplasia with joint dislocations, gPAPP type 0 trials
• Combined ApoA-I and ApoC-III deficiency 0 trials
• Defective apolipoprotein b-100 0 trials
• Deficiency of coenzyme q cytochrome c reductase 0 trials
• Diabetes mellitus, noninsulin-dependent, 3 0 trials
• Diabetes mellitus, noninsulin-dependent, 4 0 trials
• Diabetes mellitus, noninsulin-dependent, 5 0 trials
• Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 0 trials
• Ferro-cerebro-cutaneous syndrome 0 trials
• Gluthathione peroxidase deficiency 0 trials
• Hemolytic anemia due to diphosphoglycerate mutase deficiency 0 trials
• Hypercholesterolemia, familial, 4 0 trials
• Hypermanganesemia with dystonia 0 trials
  2 sub-types

  • Cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome 0 trials
  • Hypermanganesemia with dystonia 2 0 trials
• Hypertriglyceridemia 1 0 trials
• Hypertriglyceridemia 2 0 trials
• Hypoalphalipoproteinemia, primary, 2 0 trials
  1 sub-type

  • Hypoalphalipoproteinemia, primary, 2, intermediate 0 trials
• Hypotonia-failure to thrive-microcephaly syndrome 0 trials
• Inborn disorder of aspartate family metabolism 0 trials
  2 sub-types

  • Disorder of methionine catabolism 0 trials Sub-types →
  • Inborn disorder of lysine and hydroxylysine metabolism 0 trials Sub-types →
• Inborn glycerol kinase deficiency 0 trials
  3 sub-types

  • Chromosome Xp21 deletion syndrome 0 trials
  • Glycerol kinase deficiency, infantile form 0 trials
  • Isolated glycerol kinase deficiency 0 trials Sub-types →
• Inherited threoninemia 0 trials
• Multiple epiphyseal dysplasia type 4 0 trials
• Normophosphatemic familial tumoral calcinosis 0 trials
• Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 0 trials
• Spondyloepimetaphyseal dysplasia, PAPSS2 type 0 trials
• Spondyloepiphyseal dysplasia with congenital joint dislocations 0 trials
• Striatonigral degeneration 0 trials
  3 sub-types

  • Familial infantile bilateral striatal necrosis 0 trials Sub-types →
  • Striatal degeneration, autosomal dominant 0 trials Sub-types →
  • Striatonigral degeneration, childhood-onset 0 trials
• Sulfide quinone oxidoreductase deficiency 0 trials
• Tumoral calcinosis, hyperphosphatemic, familial, 1 0 trials
• Tumoral calcinosis, hyperphosphatemic, familial, 2 0 trials
• Tumoral calcinosis, hyperphosphatemic, familial, 3 0 trials
• Uridine-cytidineuria 0 trials
• Weinstein kliman scully syndrome 0 trials