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Pyruvate kinase deficiency Fumarase deficiency Acute intermittent porphyria Sanfilippo syndrome Alexander disease Canavan disease Hypophosphatasia Methylmalonic acidemia Lysosomal acid lipase deficiency Glycogen storage disease type iii Aceruloplasminemia Glycogen storage disease type ii Metachromatic leukodystrophy Glycogen storage disease type v Leigh syndrome Melas syndrome Spinal muscular atrophy Homocystinuria Biotinidase deficiency Corticobasal degeneration I-cell disease Molybdenum cofactor deficiency Krabbe disease Adenosine deaminase deficiency Mitochondrial disease Menkes disease Refsum disease Pseudocholinesterase deficiency Lafora disease Glycogen storage disease Congenital myasthenic syndrome Tyrosinemia type i Hyperkalemic periodic paralysis Mastocytosis Mucolipidosis Motor neuron disease Severe combined immunodeficiency Mitochondrial myopathy Progressive muscular atrophy Hypokalemic periodic paralysis Multiple system atrophy Morquio syndrome Opsoclonus myoclonus syndrome Glycogen storage disease type i Gaucher's disease Myeloperoxidase deficiency Primary lateral sclerosis Dyskeratosis congenita Creatine transporter defect Joubert syndrome Myotonic dystrophy Atypical hemolytic uremic syndrome Fanconi anemia Metabolic disorder Mcleod syndrome Familial amyloid polyneuropathy Bartter syndrome Fabry disease Galactosemia Phenylketonuria Trimethylaminuria Susac's syndrome Merrf syndrome Leukocyte adhesion deficiency Alkaptonuria Paramyotonia congenita Neurodegenerative disease Primary ciliary dyskinesia Lig4 syndrome Familial dysautonomia Alpha-1 antitrypsin deficiency Posterior cortical atrophy Corneal dystrophy Tuberous sclerosis Addison's disease Acdc Benedikt syndrome Huntington's disease Pulmonary alveolar proteinosis Cystinosis Lutembacher's syndrome Tyrosinemia Cystic fibrosis Dentin dysplasia Lateral medullary syndrome Pernicious anemia Central pontine myelinolysis Spinal and bulbar muscular atrophy Gitelman syndrome Charge syndrome Caroli disease Amelogenesis imperfecta Pycnodysostosis Granulomatosis with polyangiitis Pure red cell aplasia Exocrine pancreatic insufficiency Muscular dystrophy Inborn errors of metabolism Citrullinemia Central diabetes insipidus

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