Klinische FragestellungMultipler Acyl-CoA-Dehydrogenase-Mangel, neonatal; Differentialdiagnose

NGS +

• Alias: Glutaric aciduria type 2, severe neonatal type
• Alias: Multiple Acyl-CoA Dehydrogenase Deficiency, severe neonatal type
• Alias: Multiple Acyl-CoA Dehydrogenase deficiency, severe neonatal type
• Allelic: Encephalopathy, acute, infection-induced, 4, susceptibility to (CPT2)
• Allelic: Fatty liver, acute, of pregnancy (HADHA)
• Allelic: HELLP syndrome, maternal, of pregnancy (HADHA)
• Allelic: Pulmonary hypertension, neonatal, susceptibility to (CPS1)
• Argininosuccinic aciduria (ASL)
• Brown-Vialetto-Van Laere syndrome 1 (SLC26A3)
• Brown-Vialetto-Van Laere syndrome 2 (SLC25A2)
• CPT II deficiency, infantile (CPT2)
• CPT II deficiency, lethal neonatal (CPT2)
• CPT II deficiency, myopathic, stress-induced (CPT2)
• CPT deficiency, hepatic, type IA (CPT1A)
• Carbamoylphosphate synthetase I deficiency (CPS1)
• Carnitine deficiency, systemic primary (SLC22A5)
• Carnitine-acylcarnitine translocase deficiency (SLC25A20)
• Citrullinemia (ASS1)
• Fazio-Londe disease (SLC25A3)
• Glutaric acidemia IIA (ETFA)
• Glutaric acidemia IIB (ETFB)
• Glutaric acidemia IIC (ETFDH)
• LCHAD deficiency (HADHA)
• Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (FLAD1)
• Mitochondrial trifunctional protein deficiency (HADHA)
• Ornithine transcarbamylase deficiency (OTC)
• Riboflavin deficiency (SLC25A1)
• Trifunctional protein deficiency (HADHB)
• VLCAD deficiency (ACADVL)