Tyrosinemia is a metabolic genetic disease. There are many types according to the mutated genes. Tyrosinemia type 1 is caused by the mutation of FAH gene on chromosome 15, which leads to dysfunction of fumaryl acetoacetate hydrolase.
Oculocutaneous albinism type 1 is a genetic disease that affect coloring (pigmentation) of the skin, hair, and eyes. These conditions are caused by mutations in the TYR gene on chromosome 11.
Mucopolysaccharidoses, a group of lysosomal storage diseases, are classified into 11 types according to the genes involved. Type I is the most severe one.
Fragile X Syndrome is a common genetic disorder of intellectual disability and its prevalence is only second to Down syndrome. The disorder is caused by abnormal expansion of the CGG trinucleotide repeat sequence of FMR1 gene on the X chromosome.
This interpretation of results indicating that the patient may have an inherited metabolic disease can be used as additional information when you have consultations with doctors. Please read the following information carefully.
Bardet-Biedl syndrome (BBS) is mostly caused by mutations in BBS-related genes. There are at least 26 different types of Bardet-Biedl syndrome, which can be distinguished by their signs and symptoms and genetic cause.
Alpha-1 antitrypsin deficiency (A1ATD) is a hereditary endocrine disease. It caused by the mutation of SERPINA1 gene on chromosome 14, resulting in abnormal or low production of α1-antitrypsin (AAT).
Classic galactosemia is a rare autosomal recessive disorders that causes an inability to digest galactose, which is a breakdown product of lactose. Lactose is found mainly in milk and dairy products.
Glucose-6-phosphate dehydrogenase (G6PD) is a vital enzyme in all types of cells for the normal processing of carbohydrates turn into energy. It especially plays a critical role in red blood cells.
Thyroid stimulating hormone (TSH) is the hormone produced by the brain which is a messenger to tell the thyroid gland to make more thyroid hormone.
