Klinische Fragestellung3-Methylglutaconazidurie Typ 7, Differentialdiagnose

NGS +

3-Methylglutaconsäure-Urie stellt eine Gruppe von Stoffwechselstörungen dar, die die Energieproduktion in den Mitochondrien verhindern. In der Folge sammelt sich 3-Methylglutaconsäure an und kann im Urin nachgewiesen werden.

• Alias: 3-Methylglutaconazidurie-Katarakt-neurologische Beteiligung-Neutropenie-Syndrom
• Alias: 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome
• Alias: Caseinolytic Peptidase B Deficiency, type VIIB (CLPB)
• Allelic: Dursun syndrome (G6PC)
• Allelic: Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
• Allelic: Optic atrophy 3 with cataract (OPA3)
• 3-methylglutaconic aciduria with deafness, encephalopathy, Leigh-like syndrome (SERAC1)
• 3-methylglutaconic aciduria, type I (AUH)
• 3-methylglutaconic aciduria, type III (OPA3)
• 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement, neutropenia (CLPB)
• Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
• Aplastic anemia, susceptibility to (SBDS)
• Barth syndrome (TAFAZZIN)
• Cataract 38, AR (AGK)
• Ceroid lipofuscinosis, neuronal, 4, Parry type (DNAJC5)
• Developmental and epileptic encephalopathy 8 (ARHGEF9)
• Hyperekplexia 1 (GLRA1)
• Hyperekplexia 2 (GLRB)
• Hyperekplexia 3 (SLC6A5)
• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (TMEM70)
• Molybdenum cofactor deficiency C (GPHN)
• Neutropenia, cyclic (ELANE)
• Neutropenia, severe congenital 1, AD (ELANE)
• Neutropenia, severe congenital 4, AR (G6PC)
• Neutropenia, severe congenital, XL (WAS)
• Sengers syndrome (AGK)
• Shwachman-Diamond syndrome (SBDS)
• Thrombocytopenia with beta-thalassemia, XL (GATA1)
• Thrombocytopenia, XL (WAS)
• Thrombocytopenia, XL, intermittent (WAS)
• Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
• Wiskott-Aldrich syndrome (WAS)