IllnessTyrosinaemia type I-III, differential diagnosis

NGS +

Inborn errors of tyrosine catabolism caused by defective enzymatic activity, partly dramatic improvement in prognosis following treatment with nitisinone

Tyrosinemia type 1 (ORPHA:882): inborn error of tyrosine catabolism due to defective fumarylacetoacetate hydrolase (FAH), characterized by progressive liver disease

Tyrosinemia type 2 (ORPHA:28378): inborn error of tyrosine metabolism with hypertyrosinemia, oculocutaneous manifestations, in some cases, intellectual deficit

Tyrosinemia type 3 (ORPHA:69723): inborn error of tyrosine metabolism with mild hypertyrosinemia, increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate, 4-hydroxyphenylacetate, porphyria-like crises, dramatic improvement in prognosis following treatment with nitisinone

• Alias: Fumarylacetoacetase [FAH] deficiency
• Alias: Fumarylacetoacetate hydrolase [FAH] deficiency
• Alias: Hepatorenal tyrosinemia, included
• Alias: Keratosis palmoplantaris-corneal dystrophy syndrome, included
• Alias: Oculocutaneous tyrosinemia, included
• Alias: Richner-Hanhart syndrome, included
• Alias: Tyrosinemia due to tyrosine aminotransferase [TAT] deficiency
• Alias: Tyrosinemia, type I-III
• Allelic: Aplastic anemia (PRF1)
• Allelic: Hawkinsinuria (HPD)
• Allelic: Lymphoma, non-Hodgkin (PRF1)
• Cystinosis, atypical nephropathic (CTNS)
• Cystinosis, late-onset juvenile or adolescent nephropathic (CTNS)
• Cystinosis, nephropathic (CTNS)
• Cystinosis, ocular nonnephropathic (CTNS)
• Dent disease 2 (OCRL)
• Fructose intolerance, hereditary (ALDOB)
• Fructose-1,6-bisphosphatase deficiency (FBP1)
• Galactosemia (GALT)
• Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
• Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
• Hemophagocytic lymphohistiocytosis, familial, 4 (STX11)
• Hemophagocytic lymphohistiocytosis, familial, 5, with/-out microvillus inclusion disease ((STXBP2)
• Homocystinuria, B6-responsive + nonresponsive types ((CBS)
• Hypophosphatasia, adult (ALPL)
• Hypophosphatasia, childhood (ALPL)
• Hypophosphatasia, infantile (ALPL)
• Hypophosphatemic rickets, XLD (PHEX)
• Lowe syndrome (OCRL)
• Niemann-Pick disease, type C1 (NPC1)
• Niemann-Pick disease, type D (NPC1)
• Odontohypophosphatasia (ALPL)
• Porphyria, acute intermittent (HMBS)
• Porphyria, acute intermittent, nonerythroid variant (HMBS)
• Thrombosis, hyperhomocysteinemic (CBS)
• Transaldolase deficiency (TALDO1)
• Tyrosinemia type I (FAH)
• Tyrosinemia, type II (TAT)
• Tyrosinemia, type III (HPD)
• Wilson disease (ATP7B)