Biomaterial Database

Findings in routine laboratory examination in progressive myoclonus epilepsy. 1975

M Koskiniemi

Thirty-one patients suffering from progressive myoclonus epilepsy, (also called Unverricht-Lundborg's disease) without Lafora bodies, were examined to check the findings reported in literature and to chart out the main abnormalities in routine laboratory findings. Many alterations could be pointed out, but a high proportion of them were due to factors which are secondary to the syndrome of progressive myoclonus epilepsy: continuous anticonvulsive medication; immobilization; frequent infections; and the patient's poor nutritional condition. The most remarkable finding, and the only one which supported the abnormality reported earlier, was the raised excretion of indican which could not be explained by fermentation in the bowels. The urinary 5-hydroxyindoleacetic acid excretion was a little low, but still within the normal range. The tryptophan and 5-hydroxytryptamine metabolism deserves further investigation in attempting to discover the aetiology of progressive myoclonus epilepsy.

UI	MeSH Term	Description	Entries
D007200	Indican	A substance occurring in the urine of mammals and also in blood plasma as the normal metabolite of tryptophan. An increased urinary excretion of indican is seen in Hartnup disease from the bacterial degradation of unabsorbed tryptophan.	1H-Indol-3-ol Hydrogen Sulfate Ester,Indican Monopotassium Salt,Indican Monosodium Salt,Indoxyl Sulfate,Monopotassium Salt, Indican,Monosodium Salt, Indican,Sulfate, Indoxyl
D009083	Mucopolysaccharidoses	Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.	Mucopolysaccharidosis
D009207	Myoclonus	Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).	Myoclonus, Action,Myoclonus, Nocturnal,Myoclonus, Palatal,Polymyoclonus,Myoclonic Jerk,Myoclonic Jerking,Myoclonus Simplex,Myoclonus, Eyelid,Myoclonus, Intention,Myoclonus, Lower Extremity,Myoclonus, Oculopalatal,Myoclonus, Segmental,Myoclonus, Sleep,Myoclonus, Upper Extremity,Action Myoclonus,Extremity Myoclonus, Lower,Extremity Myoclonus, Upper,Eyelid Myoclonus,Intention Myoclonus,Jerk, Myoclonic,Jerking, Myoclonic,Jerks, Myoclonic,Lower Extremity Myoclonus,Myoclonic Jerks,Nocturnal Myoclonus,Oculopalatal Myoclonus,Palatal Myoclonus,Segmental Myoclonus,Simplex, Myoclonus,Sleep Myoclonus,Upper Extremity Myoclonus
D010672	Phenytoin	An anticonvulsant that is used to treat a wide variety of seizures. It is also an anti-arrhythmic and a muscle relaxant. The mechanism of therapeutic action is not clear, although several cellular actions have been described including effects on ion channels, active transport, and general membrane stabilization. The mechanism of its muscle relaxant effect appears to involve a reduction in the sensitivity of muscle spindles to stretch. Phenytoin has been proposed for several other therapeutic uses, but its use has been limited by its many adverse effects and interactions with other drugs.	Diphenylhydantoin,Fenitoin,Phenhydan,5,5-Diphenylhydantoin,5,5-diphenylimidazolidine-2,4-dione,Antisacer,Difenin,Dihydan,Dilantin,Epamin,Epanutin,Hydantol,Phenytoin Sodium,Sodium Diphenylhydantoinate,Diphenylhydantoinate, Sodium
D001786	Blood Glucose	Glucose in blood.	Blood Sugar,Glucose, Blood,Sugar, Blood
D001798	Blood Proteins	Proteins that are present in blood serum, including SERUM ALBUMIN; BLOOD COAGULATION FACTORS; and many other types of proteins.	Blood Protein,Plasma Protein,Plasma Proteins,Serum Protein,Serum Proteins,Protein, Blood,Protein, Plasma,Protein, Serum,Proteins, Blood,Proteins, Plasma,Proteins, Serum
D002556	Cerebrospinal Fluid Proteins	Proteins in the cerebrospinal fluid, normally albumin and globulin present in the ratio of 8 to 1. Increases in protein levels are of diagnostic value in neurological diseases. (Brain and Bannister's Clinical Neurology, 7th ed, p221)	Proteins, Cerebrospinal Fluid,Fluid Proteins, Cerebrospinal
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D003300	Copper	A heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55.	Copper-63,Copper 63
D003404	Creatinine		Creatinine Sulfate Salt,Krebiozen,Salt, Creatinine Sulfate,Sulfate Salt, Creatinine