Search results
Results from the WOW.Com Content Network
Carnitine deficiency has been extensively studied, although most commonly as a secondary finding to other metabolic conditions. [5] The first case of SPCD was reported in the 1980s, in a child with fasting hypoketotic hypoglycemia that resolved after treatment with carnitine supplementation.
Carnitine deficiency is found in about 50% of cases. [18] Over 90% of those diagnosed with 3-Methylcrotonyl-CoA carboxylase deficiency by newborn screening remain asymptomatic. The medical abnormalities that present in the few who do show symptoms are not always clearly related to 3-Methylcrotonyl-CoA carboxylase deficiency. [5]
Carnitine-acylcarnitine translocase deficiency has an autosomal recessive pattern of inheritance. Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty acids into energy, particularly during periods without food. [ 1 ]
The lack of clinician awareness of the signs -symptoms and ailments- of a CSF leak is the greatest challenge to proper diagnosis and treatment, in particular: the loss of the orthostatic characteristic of headache and that every chronic CSF leaker will have a unique symptom set that as a whole contributes to the underlying condition, and ...
After migraine, the most common type of vascular headache is the "toxic" headache produced by fever. Other kinds of vascular headaches include cluster headaches, which are very severe recurrent short lasting headaches, often located through or around either eye and often wake the patients up at the same time every night. Unlike migraines, these ...
Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. The disorder presents in one of three ...
Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase , the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle , responsible for converting carbamoyl phosphate and ornithine into citrulline .
Signs and symptoms of this disorder include low levels of ketones (hypoketosis) and low blood sugar (hypoglycemia). Together these signs are called hypoketotic hypoglycemia. People with this disorder typically also have an enlarged liver (hepatomegaly), muscle weakness, and elevated levels of carnitine in the blood. [2]