What is pekan disease?
What is pekan disease?
Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden-Spatz syndrome, is a rare, inherited neurological movement disorder characterized by the progressive degeneration of specific regions in the central nervous system (neurodegenerative disorder).
What causes PKAN disease?
PKAN is inherited in an autosomal recessive manner and is caused by mutations in the PANK2 gene . Treatment depends on the symptoms, and may include medication (such as botulinum toxin ), surgery, deep brain stimulation and physical therapy .
What is HARP syndrome?
Description. HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase associated neurodegeneration (PKAN). Both HARP and PKAN are caused by mutations in the gene encoding pantothenate kinase 2 (PANK2).
What is Dysmetabolic Hyperferritinemia?
Dysmetabolic hyperferritinemia, also known as insulin resistance associated with iron overload, is a much more common disorder than recognized clinically by physicians. It is characterized by the presence of elevated serum ferritin, but normal transferrin saturation in an individual with features of metabolic syndrome.
What are the symptoms of aceruloplasminemia?
The three main findings associated with aceruloplasminemia are retinal degeneration, neurological symptoms and diabetes mellitus. Some individuals with aceruloplasminemia develop mild anemia (low levels of circulating red blood cells), which can cause fatigue, weakness, shortness of breath and pale skin.
What is the primary treatment for Leigh disease?
The most common treatment for Leigh’s disease is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis. Researchers are currently testing dichloroacetate to establish its effectiveness in treating lactic acidosis.
What are the symptoms of a calcium deficiency?
Or perhaps you have experienced headaches, allergies, memory loss, and more common colds than usual?. These are several calcium deficiency symptoms to watch for as they could lead to more serious symptoms such as cancer, osteoporosis, heart failure, and miscarriages.
What is pantothenate kinase associated neurodegeneration ( PKAN )?
General Discussion. Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden-Spatz syndrome, is a rare, inherited neurological movement disorder characterized by the progressive degeneration of specific regions in the central nervous system (neurodegenerative disorder).
What causes low calcium levels in the blood?
Other factors in losing calcium levels in our blood system include: Health conditions can also play a part in low calcium absorption or loss. This can include chronic kidney disease, thyroid issues, gastric bypass surgery, and even certain prescription drugs such as anti-seizure medications, proton pump inhibitors, and chemotherapy drugs.
Is there a link between calcium and kidney stones?
Kidney stones in the urinary tract are most commonly composed of calcium oxalate. Some, but not all, studies suggest a positive association between supplemental calcium intake and the risk of kidney stones, and these findings were used as the basis for setting the calcium UL in adults .