MLYCD gene Also known as: Malonyl-CoA decarboxylase deficiency (MLYCD) OMIM#248360 https://omim.org/entry/248360 1. The disease Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MLYCD). This disease...
HADHA gene Also known as: LCHAD deficiency; HELLP syndrome, maternal, of pregnancy; fatty liver, acute, of pregnancy #609016 https://omim.org/entry/609016 Includes: – Mitochondrial Trifunctional Protein Deficiency (MTP) – (HADHB gene)...
IVD gene Also known as: Isovaleric Acid-Coa-Dehydrogenase deficiency; IVD deficiency; IVA OMIM#243500 https://omim.org/entry/243500 1. The disease: IVA is a rare, autosomal recessive, organic aciduria that is characterized by variable...
SLC25A15 gene Also known: Ornitine Translocase Deficiency; HHH syndrome; 3H syndrome OMIM#238970 https://omim.org/entry/238970 1. The Disease A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset...
ADK gene Also known: Hypermethioninemia encephalopathy due to adenosine kinase deficiency; ADK Deficiency; Mental Retardation, Recessive 8, formely OMIM#614300 https://omim.org/entry/614300 1. The Disease Hypermethioninemia encephalopathy due to adenosine kinase...
AHCY gene Also known: S-AdoHcy Deficiency; SAHH deficiency OMIM#613752 https://omim.org/entry/613752 1. The Disease A rare, multisystemic inherited metabolic diseases characterized clinically, by a variable spectrum of severity, primarily comprised...
GUSB gene Also known as: Sly syndrome; Beta-glucuronidase deficiency; GUSB deficiency; MPS VII OMIM#253220 https://omim.org/entry/253220 1. The Disease: Mucopolysaccharidosis VII (MPS VII), also known as Sly syndrome, is a...
ARSB gene Also known as: Maroteaux-Lamy syndrome; Arylsulfatase B deficiency; ARSB deficiency; MPSVI; N-Acetylgalactosamine-4-Sulfatase deficiency OMIM#253200 https://omim.org/entry/253200 1. The Disease: Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux-Lamy syndrome,...
GALNS gene Also known as: Morquio A disease; Morquio A syndrome; Galactosamine-6-Sulfatase Deficiency OMIM#253000 https://omim.org/entry/253000 1. The Disease: Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A syndrome, is...
IDS gene Also known as: Hunter syndrome; Iduronate-2-Sulfatase deficiency; IDS deficiency; Sulfoiduronate sulfatase deficiency; SIDS deficiency – OMIM#309900 https://omim.org/entry/309900 1. The Disease: Mucopolysaccharidosis II (MPS II), or Hunter syndrome,...