Klinische FragestellungHarnstoffzyklus-Störungen, Hyperammonämie; Differentialdiagnose

NGS +

• Alias: Hyperammonemia
• Allelic: Encephalopathy, acute, infection-induced, 4, susceptibility to (CPT2)
• Allelic: Pulmonary hypertension, neonatal, susceptibility to (CPS1)
• 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome (SERAC1)
• 3-methylglutaconic aciduria, type I (AUH)
• Acyl-CoA dehydrogenase, medium chain, deficiency of (ACADM)
• Argininemia (ARG1)
• Argininosuccinic aciduria (ASL)
• 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)
• Citrullinemia, adult-onset type II (SLC25A13)Citrullinemia, type II, neonatal-onset (SLC25A13)
• Cutis laxa, AD 3 (ALDH18A1)
• Cutis laxa, AR, type IIIA (ALDH18A1)
• Fatty liver, acute, of pregnancy (HADHA)
• Galactosemia (GALT)
• Glutaric acidemia IIA (ETFA)
• Glutaric acidemia IIB (ETFB)
• Glutaric acidemia IIC (ETFDH)
• Gyrate atrophy of choroid and retina with or without ornithinemia (OAT)
• HELLP syndrome, maternal, of pregnancy (HADHA)
• HMG-CoA lyase deficiency (HMGCL)
• Holocarboxylase synthetase deficiency (HLCS)
• Hyperammonemia due to carbonic anhydrase VA deficiency (CA5A)
• Hyperinsulinism-hyperammonemia syndrome (GLUD1)
• Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (SLC25A15)
• Isovaleric acidemia (IVD)
• LCHAD deficiency (HADHA)
• Lysinuric protein intolerance (SLC7A7)
• Malonyl-CoA decarboxylase deficiency (MLYCD)
• Maple syrup urine disease, type II (DBT)
• Maple syrup urine disease, type Ia (BCKDHA)
• Maple syrup urine disease, type Ib (BCKDHB)
• McArdle disease (PYGM)
• Methylmalonic aciduria, mut(0) type (MMUT)
• Methylmalonic aciduria, vitamin B12-responsive, cblA type (MMAA)
• Methylmalonic aciduria, vitamin B12-responsive, cblB type (MMAB)
• Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
• Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
• Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (TMEM70)
• Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
• Mitochondrial trifunctional protein deficiency (HADHA)
• N-acetylglutamate synthase deficiency (NAGS)
• Ornithine transcarbamylase deficiency (OTC)
• Progressive external ophthalmoplegia, AD 1 (POLG)
• Progressive external ophthalmoplegia, AR 1 (POLG)
• Propionicacidemia (PCCA, PCCB)
• Pyruvate carboxylase deficiency (PC)
• Spastic paraplegia 9A, AD (ALDH18A1)
• Spastic paraplegia 9B, AR ALD18A1)
• Trifunctional protein deficiency (HADHB)
• Tyrosinemia, type I (FAH)
• VLCAD deficiency (ACADVL)