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197 Possible Causes for Hydroxymethylbilane, Synthase

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  • Acute Intermittent Porphyria

    Acute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by a deficiency of hydroxymethylbilane synthase (HMBS).[ncbi.nlm.nih.gov] Abstract Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disorder caused by deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase ([ncbi.nlm.nih.gov] RATIONALE: Acute intermittent porphyria (AIP) is caused by hydroxymethylbilane synthase (HMBS) gene mutation.[ncbi.nlm.nih.gov]

  • Sideroblastic Anemia

    BACKGROUND: X-linked sideroblastic anemia is usually associated with reduced 5-aminolevulinate synthase activity in erythroid cells, and some cases are responsive to treatment[ncbi.nlm.nih.gov] ) , the most common acute hepatic porphyria, is an autosomal dominant disorder resulting from the half-normal activity of porphobilinogen deaminase [PBGD] (also known as hydroxymethylbilane[ommbid.mhmedical.com] Abstract Recently, the human gene encoding erythroid-specific delta-aminolevulinate synthase was localized to the chromosomal region Xp21-Xq21, identifying this gene as the[ncbi.nlm.nih.gov]

  • Erythropoietic Porphyria

    UROIIIS catalyzes the cyclization of the linear tetrapyrrol hydroxymethylbilane (HMB), inverting the configuration in one of the aromatic rings.[ncbi.nlm.nih.gov] Abstract A hitherto undescribed dual deficiency of uroporphyrinogen III synthase and uroporphyrinogen decarboxylase was observed in the erythrocytes in a 14 year-old patient[ncbi.nlm.nih.gov] Illness Index Spectrophotometry Uroporphyrinogen III Synthetase/genetics* Uroporphyrinogen III Synthetase/metabolism Uroporphyrinogens/metabolism Substances Uroporphyrinogens hydroxymethylbilane[ncbi.nlm.nih.gov]

  • Porphyria

    Uroporphyrinogen I and III cosynthase form uroporphyrinogen I and III from hydroxymethylbilane cyclizing the linear molecule.[emedicine.medscape.com] Delta-aminolevulinic acid synthase-1 is a rational target for additional therapies to control symptoms in acute porphyria. Copyright 2015 Elsevier Inc.[ncbi.nlm.nih.gov] 177000 Hydroxymethylbilane synthase (HMBS); Locus ID: 3145. LocusLink: Hydroxymethylbilane synthase (HMBS); MIM number: 176000. OMIM: ‐post/Omim/dispmim?[els.net]

  • Otitis Media

    Leukozyten Hexosaminidase A und B Hexosaminidase A und B im Leukozyten Hexosaminidase B Histamin im Urin HLA-B5701 HLA-Typisierung Holo-Transcobalamin Homovanillinsäure Hydroxymethylbilan-Synthase[laborberlin.com] Hexosaminidase A und B Hexosaminidase A und B im Leukozyten Hexosaminidase B Histamin im Urin HLA-B5701 HLA-Typisierung Holo-Transcobalamin Homovanillinsäure Hydroxymethylbilan-Synthase[laborberlin.com]

  • Hepatitis C Virus

    Leukozyten Hexosaminidase A und B Hexosaminidase A und B im Leukozyten Hexosaminidase B Histamin im Urin HLA-B5701 HLA-Typisierung Holo-Transcobalamin Homovanillinsäure Hydroxymethylbilan-Synthase[laborberlin.com] In contrast, expression of the key enzymes of hepatic de novo lipogenesis fatty acid synthase (FASN) and stearoyl-CoA desaturase (SCD-1) was significantly reduced upon oleate[ncbi.nlm.nih.gov] Hexosaminidase A und B Hexosaminidase A und B im Leukozyten Hexosaminidase B Histamin im Urin HLA-B5701 HLA-Typisierung Holo-Transcobalamin Homovanillinsäure Hydroxymethylbilan-Synthase[laborberlin.com]

  • Acute Hepatic Porphyria

    In addition, hydroxymethylbilane synthase (HMBS), coproporphyrinogen oxidase (CPO) and protoporphyrinogen oxidase (PPOX) were determined in many subjects.[porphyria.eu] Abstract Deficient porphobilinogen-synthase (PBG-S) of a previously reported patient with PBG-S defect porphyria (red cell PBG-S activity approximately 2% of the physiological[ncbi.nlm.nih.gov] […] intermittent porphyria (AIP) - Considered as one of the most common forms of porphyria, AIP is inherited through autosomal dominant patterns, and is caused by mutations in hydroxymethylbilane[symptoma.com]

  • Hepatitis D

    Leukozyten Hexosaminidase A und B Hexosaminidase A und B im Leukozyten Hexosaminidase B Histamin im Urin HLA-B5701 HLA-Typisierung Holo-Transcobalamin Homovanillinsäure Hydroxymethylbilan-Synthase[laborberlin.com] Hexosaminidase A und B Hexosaminidase A und B im Leukozyten Hexosaminidase B Histamin im Urin HLA-B5701 HLA-Typisierung Holo-Transcobalamin Homovanillinsäure Hydroxymethylbilan-Synthase[laborberlin.com]

  • Hereditary Angioedema Type 1

    Leukozyten Hexosaminidase A und B Hexosaminidase A und B im Leukozyten Hexosaminidase B Histamin im Urin HLA-B5701 HLA-Typisierung Holo-Transcobalamin Homovanillinsäure Hydroxymethylbilan-Synthase[laborberlin.com] Hexosaminidase A und B Hexosaminidase A und B im Leukozyten Hexosaminidase B Histamin im Urin HLA-B5701 HLA-Typisierung Holo-Transcobalamin Homovanillinsäure Hydroxymethylbilan-Synthase[laborberlin.com]

  • Hepatitis E Virus

    Leukozyten Hexosaminidase A und B Hexosaminidase A und B im Leukozyten Hexosaminidase B Histamin im Urin HLA-B5701 HLA-Typisierung Holo-Transcobalamin Homovanillinsäure Hydroxymethylbilan-Synthase[laborberlin.com] Hexosaminidase A und B Hexosaminidase A und B im Leukozyten Hexosaminidase B Histamin im Urin HLA-B5701 HLA-Typisierung Holo-Transcobalamin Homovanillinsäure Hydroxymethylbilan-Synthase[laborberlin.com]

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