Hypermethioninemia due to adenosine kinase (ADK) deficiency is a rare genetic condition that affects the body’s ability to metabolize certain amino acids properly. This disorder can lead to a range of symptoms, some of which may be severe and impact an individual’s quality of life. Understanding these symptoms is crucial for early diagnosis and effective […]
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (AHCY) is a rare genetic disorder affecting the body’s ability to process certain amino acids properly. This condition can lead to a range of symptoms and health issues, making it crucial for individuals to understand the potential signs and the importance of genetic testing. DNA Labs UAE offers a […]
Symptoms of PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 Hyperphosphatasia with mental retardation syndrome type 1 (HPMRS1), also known as Mabry syndrome, is a rare genetic disorder caused by mutations in the PIGV gene. This condition is characterized by elevated levels of alkaline phosphatase in the blood, intellectual disability, and various physical anomalies. […]
Hirschsprung disease is a rare disorder that affects the large intestine (colon) and causes problems with passing stool. It is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby’s colon. A leading cause of this condition is mutations in the RET gene, among others. Recognizing the symptoms […]
— Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is a rare genetic condition characterized by elevated levels of alkaline phosphatase, intellectual disability, and distinct facial features. One of the genes associated with this condition is the PIGO gene, which plays a critical role in glycosylphosphatidylinositol (GPI) anchor biosynthesis. The GPI anchor […]
In the realm of medical genetics, understanding the underlying causes of various diseases is paramount for diagnosis, treatment, and, in some cases, prevention. One such condition that has garnered attention for its genetic roots is Hirschsprung disease (HSCR), particularly its association with mutations in the ZEB2 gene. DNA Labs UAE is at the forefront of […]
### Article Content: Hyperphosphatasia with Mental Retardation Syndrome Type 3 (HPMRS3), also known as Mabry Syndrome, is a rare genetic disorder characterized by elevated levels of alkaline phosphatase in the blood, intellectual disability, and distinct facial features. This condition is caused by mutations in the PGAP2 gene. Understanding the symptoms and opting for a genetic […]
Hirschsprung disease is a serious condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present from birth (congenital) and is due to missing nerve cells in the muscles of part or all of the baby’s colon. A particular form of this disease, known as Hirschsprung Disease Type 3, […]
— Hyperphosphatasia with mental retardation syndrome type 4 (HPMRS4), also known as PGAP3 deficiency, is a rare genetic condition that affects various parts of the body, including the brain. This disorder is part of a group of diseases known as glycosylphosphatidylinositol (GPI) biosynthesis defects, which are characterized by intellectual disability, seizures, and skeletal abnormalities due […]
Symptoms of CDON Gene Holoprosencephaly Type 11 Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the embryonic forebrain. Among the genetic variations responsible for this condition, mutations in the CDON gene are identified as a cause of Holoprosencephaly Type 11. Recognizing the symptoms of this genetic condition is crucial for early […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
