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Results: 1 to 20 of 41

1.

Pyridoxine-dependent epilepsy

Pyridoxine-dependent epilepsy is characterized by intractable seizures that are not controlled with antiepileptic drugs but that respond both clinically and electrographically to large daily supplements of pyridoxine (vitamin B6). Multiple types of clinical seizures have been reported in individuals with pyridoxine-dependent epilepsy. Dramatic presentations consisting of prolonged seizures and recurrent episodes of status epilepticus are typical; recurrent self-limited events including partial seizures, generalized seizures, atonic seizures, myoclonic events, and infantile spasms also occur. Affected individuals may have electrographic seizures without clinical correlates. Infants with the classic neonatal presentation begin to experience seizures soon after birth. Atypical features include: late-onset seizures (age =3 years); seizures that initially respond to antiepileptic drugs and then become intractable; seizures during early life that do not respond to pyridoxine but that are then controlled with pyridoxine several months later; and prolonged seizure-free intervals (=5 1/2 months) that occur after pyridoxine discontinuation. Intellectual disability is common. [from GeneReviews]

MedGen UID:
340341
Concept ID:
C1849508
Disease or Syndrome
2.

pyridoxine

The 4-methanol form of VITAMIN B 6 which is converted to PYRIDOXAL PHOSPHATE which is a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, aminolevulinic acid. Although pyridoxine and Vitamin B 6 are still frequently used as synonyms, especially by medical researchers, this practice is erroneous and sometimes misleading (EE Snell; Ann NY Acad Sci, vol 585 pg 1, 1990). [from MeSH]

MedGen UID:
19607
Concept ID:
C0034272
Pharmacologic Substance
3.

Seizure Disorders

A disorder characterized by recurrent seizures [from SNOMED CT]

MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
4.

Seizures

MedGen UID:
409523
Concept ID:
C1959629
Finding
5.

Recurrence (disease attribute)

The return of a sign, symptom, or disease after a remission. [from MeSH]

MedGen UID:
416712
Concept ID:
C2825055
Pathologic Function
6.

Vitamin B6

VITAMIN B 6 refers to several PICOLINES (especially PYRIDOXINE; PYRIDOXAL; & PYRIDOXAMINE) that are efficiently converted by the body to PYRIDOXAL PHOSPHATE which is a coenzyme for synthesis of amino acids, neurotransmitters (serotonin, norepinephrine), sphingolipids, and aminolevulinic acid. During transamination of amino acids, pyridoxal phosphate is transiently converted into PYRIDOXAMINE phosphate. Although pyridoxine and Vitamin B 6 are still frequently used as synonyms, especially by medical researchers, this practice is erroneous and sometimes misleading (EE Snell; Ann NY Acad Sci, vol 585 pg 1, 1990). Most of vitamin B6 is eventually degraded to PYRIDOXIC ACID and excreted in the urine. [from MeSH]

MedGen UID:
39559
Concept ID:
C0087162
Pharmacologic Substance
7.

Seizure

the most dramatic type of seizure [from CHV]

MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
8.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
9.

Lysine

an essential amino acid [from CHV]

MedGen UID:
7421
Concept ID:
C0024337
Pharmacologic Substance
10.

Anticonvulsants

Medicine to stop, prevent, or control seizures (convulsions). [from NCI]

MedGen UID:
1972
Concept ID:
C0003286
Pharmacologic Substance
11.

Seizure

MedGen UID:
807319
Concept ID:
CN218424
Finding
12.

Seizure

MedGen UID:
506957
Concept ID:
CN178372
Disease or Syndrome
13.

Withdrawal (dysfunction)

A social or emotional detachment, pathological retreat from objective reality, interpersonal contact and social involvement, as in some forms of schizophrenia, depression, or schizoid, avoidant, or schizotypal personality disorders. [from NCI]

MedGen UID:
442895
Concept ID:
C2825032
Mental or Behavioral Dysfunction
14.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
15.

Nonsense mutation

A mutation that converts a sense codon (CODON) into a stop codon (CODON, TERMINATOR) or an unassigned codon and leads to the formation of truncated proteins. [from MeSH]

MedGen UID:
107464
Concept ID:
C0544885
Cell or Molecular Dysfunction
16.

Onset

The start, beginning, or early stages. [from NCI]

MedGen UID:
87142
Concept ID:
C0332162
17.

Vitamin B Complex

A group of water-soluble vitamins, some of which are COENZYMES. [from MeSH]

MedGen UID:
53039
Concept ID:
C0042849
Pharmacologic Substance
18.

Vitamins

NOTE: The "vitamin B, other" subclassification (VT109) includes combinations containing only vitamin B complex. Combinations containing only vitamin D are included in subclassification (VT509). Subclassification (VT709) includes combinations of vitamin K only. The "vitamins, other" subclassification (VT809) includes any product in which a vitamin is found in combination with an ingredient which is neither a vitamin nor a mineral. [from NDF-RT]

MedGen UID:
12117
Concept ID:
C0042890
Pharmacologic Substance
19.

Vitamin deficiency

A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. [from NCI]

MedGen UID:
267607
Concept ID:
C1510471
Disease or Syndrome
20.

Vitamin B6 deficiency

A nutritional condition produced by a deficiency of VITAMIN B 6 in the diet, characterized by dermatitis, glossitis, cheilosis, and stomatitis. Marked deficiency causes irritability, weakness, depression, dizziness, peripheral neuropathy, and seizures. In infants and children typical manifestations are diarrhea, anemia, and seizures. Deficiency can be caused by certain medications, such as isoniazid. [from MeSH]

MedGen UID:
215231
Concept ID:
C0936215
Disease or Syndrome

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