Seizures with Alkaptonuria in Adults- The Untold
نویسندگان
چکیده
منابع مشابه
Alkaptonuria.
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in co...
متن کاملFirst seizures in adults.
A seizure is a clinical manifestation of presumed or proved abnormal electrical activity in the brain. A first seizure can range from a fleeting subjective experience such as déjà vu or a twitch (myoclonic jerk) through to a tonic-clonic convulsion. Some seizuremanifestations overlap with normal phenomena. A single seizure may be provoked (with an acute precipitant that may or may not recur) or...
متن کاملNewly diagnosed seizures in adults.
OBJECTIVE To study the clinical, electroencephalographic (EEG) and computed tomography (CT) profile in a hospital population of over 18-years adult patients with newly diagnosed recurrent seizures. METHODS The clinical profiles obtained from history including detailed description of the seizures, examination, EEG and CT findings were recorded prospectively for all over-18 patients who were re...
متن کاملFalse proteinuria in patients with alkaptonuria.
False proteinuria in patients with alkaptonuria Sirs, Alkaptonuria (AKU) is a rare autosomal re-cessive disorder characterised by the inability to metabolise homogentisic acid (HGA). In the absence of HGA oxidase, HGA is rapidly oxidised to benzoquinone acetic acid, which polymerises to a melanin-like pigment and deposits in connective tissue. Mus-culoskeletal involvement (ochronosis) is the mo...
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ژورنال
عنوان ژورنال: Journal of Evolution of Medical and Dental Sciences
سال: 2020
ISSN: 2278-4748,2278-4802
DOI: 10.14260/jemds/2020/285