Managing Glutaric Aciduria Type 2: A Lifestyle Guide disease
Multiple Acyl-Coa Dehydrogenase Deficiency, also known as madd, is related to multiple acyl-coa dehydrogenase deficiency, severe neonatal type and multiple acyl-coa dehydrogenase deficiency, mild type. An important gene associated with Multiple Acyl-Coa Dehydrogenase Deficiency is ETFDH (Electron Transfer Flavoprotein Dehydrogenase), and ...
Managing Malonyl-CoA Decarboxylase Deficiency disease
Malonyl-Coa Decarboxylase Deficiency, also known as malonic aciduria, is related to atrial standstill 1 and inherited metabolic disorder, and has symptoms including abdominal pain, diarrhea and seizures. An important gene associated with Malonyl-Coa Decarboxylase Deficiency is MLYCD (Malonyl-CoA Decarboxylase). Affiliated tissues include ...
Woodhouse-Sakati Syndrome: A Comprehensive Look disease
Woodhouse-Sakati Syndrome, also known as diabetes-hypogonadism-deafness-intellectual disability syndrome, is related to dystonia and movement disease, and has symptoms including abnormality of extrapyramidal motor function An important gene associated with Woodhouse-Sakati Syndrome is DCAF17 (DDB1 And CUL4 Associated Factor 17), and among ...
Lifestyle Tips for Birt-Hogg-Dube Syndrome disease
Birt-Hogg-Dube Syndrome, also known as fibrofolliculomas with trichodiscomas and acrochordons, is related to pneumothorax, primary spontaneous and renal oncocytoma. An important gene associated with Birt-Hogg-Dube Syndrome is FLCN (Folliculin), and among its related pathways/superpathways are Signal Transduction and Viral mRNA Translation. ...
Living Well with Alkuraya-Kucinskas Syndrome disease
Alkuraya-Kucinskas Syndrome, also known as alkkucs, is related to distal arthrogryposis and spastic paraplegia 39, autosomal recessive, and has symptoms including arthralgia, metatarsalgia and muscle cramp. An important gene associated with Alkuraya-Kucinskas Syndrome is BLTP1 (Bridge-Like Lipid Transfer Protein Family Member 1), and among ...