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Results 1 - 10 of 23 for Inborn genetic diseases
  1. Carbamoyl phosphate synthetase I deficiency 
    ... synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. In this condition, the ... I deficiency disease Carbamyl-phosphate synthetase I deficiency disease Congenital hyperammonemia, type I ... Genetic Testing Registry: Congenital hyperammonemia, type I Carbamoyl-phosphate ...
    https://medlineplus.gov/...rbamoyl-phosphate-synthetase-i-deficiency - Genetics
  2. Arginase deficiency 
    ... arginase.Arginase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is ... symptoms of the condition. ARG1 deficiency Arginase deficiency disease Argininemia Hyperargininemia Genetic Testing Registry: Arginase deficiency Argininemia National Organization for ...
    https://medlineplus.gov/genetics/condition/arginase-deficiency - Genetics
  3. Hyperlysinemia 
    ... alpha-ketoglutarate reductase deficiency disease Saccharopine dehydrogenase deficiency disease Saccharopinuria Genetic Testing Registry: Hyperlysinemia Genetic Testing Registry: Saccharopinuria Hyperlysinemia ...
    https://medlineplus.gov/genetics/condition/hyperlysinemia - Genetics
  4. Riboflavin transporter deficiency neuronopathy 
    ... have similar signs and symptoms, but Fazio-Londe disease does not include sensorineural hearing loss. Because these two conditions share a genetic cause and have overlapping features, researchers determined that ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
  5. Severe congenital neutropenia 
    ... to their sons. Congenital agranulocytosis Congenital neutropenia Infantile genetic agranulocytosis Kostmann disease Kostmann's agranulocytosis Kostmann's syndrome Severe infantile ...
    https://medlineplus.gov/.../condition/severe-congenital-neutropenia - Genetics
  6. Methylmalonic acidemia with homocystinuria 
    ... methionine synthase activities Genetic Testing Registry: Cobalamin C disease Genetic Testing Registry: Methylmalonic aciduria and homocystinuria type cblD ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  7. Lesch-Nyhan syndrome 
    ... mental retardation syndrome Juvenile hyperuricemia syndrome Lesch-Nyhan disease LND LNS Primary hyperuricemia syndrome ... Lesch-Nyhan syndrome ...
    https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome - Genetics
  8. Neuroferritinopathy 
    ... of the disorder in their family. Basal ganglia disease, adult-onset Ferritin-related neurodegeneration Hereditary ferritinopathy NBIA3 Neurodegeneration with brain iron accumulation 3 Genetic Testing Registry: Neuroferritinopathy Neuroferritinopathy National Organization for Rare ...
    https://medlineplus.gov/genetics/condition/neuroferritinopathy - Genetics
  9. Beta-ureidopropionase deficiency 
    Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta- ...
    https://medlineplus.gov/.../beta-ureidopropionase-deficiency - Genetics
  10. Dihydropyrimidine dehydrogenase deficiency 
    Dihydropyrimidine dehydrogenase deficiency is a disorder characterized by a wide range of severity, with neurological problems in some individuals and no signs or symptoms ...
    https://medlineplus.gov/...ihydropyrimidine-dehydrogenase-deficiency - Genetics
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