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1.

Pyridoxine-dependent epilepsy

Pyridoxine-dependent epilepsy is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but 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 (seizures that begin from late infancy up until 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 are then controlled with pyridoxine several months later; and prolonged seizure-free intervals (=5.5 months) that occur after discontinuation of pyridoxine. Intellectual disability is common. Elevated concentration of a-aminoadipic semialdehyde (a-AASA) in urine and plasma is a strong biomarker of the disorder; pipecolic acid may also be elevated in plasma and cerebrospinal fluid. [from GeneReviews]

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

Hypoglycemia

Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include . -Hunger. -Shakiness. -Dizziness. -Confusion. -Difficulty speaking. -Feeling anxious or weak. In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan. You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
3.

Seizure Disorders

Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

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

Acidosis

Abnormal acid accumulation or depletion of base. [from HPO]

MedGen UID:
1296
Concept ID:
C0001122
Pathologic Function
5.

Neonatal hypotonia

Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. [from HPO]

MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
6.

Neonatal hypoglycemia

Hypoglycemia that occurs during the neonatal period. Causes include inadequate hepatic glycogen stores, inadequate lipid stores, or inadequate amino acid muscle stores. Signs and symptoms include tachypnea, respiratory distress, tachycardia or bradycardia, lethargy, and seizures. [from NCI]

MedGen UID:
57646
Concept ID:
C0158986
Disease or Syndrome; Finding
7.

Seizures

Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain. . Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. However, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. Seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. People who have recurring seizures due to a brain disorder have epilepsy. . NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

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

Lactic acidosis

Acidosis caused by accumulation of lactic acid more rapidly than it can be metabolized. It may occur spontaneously or in association with diseases such as DIABETES MELLITUS; LEUKEMIA; or LIVER FAILURE. [from MeSH]

MedGen UID:
1717
Concept ID:
C0001125
Disease or Syndrome
9.

Unspecified encephalopathy

Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. [from HPO]

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
10.

Generalized myoclonic seizures

Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). [from HPO]

MedGen UID:
892704
Concept ID:
C4021759
Disease or Syndrome
11.

Delay

MedGen UID:
879911
Concept ID:
CN235300
Finding
12.

Seizures

MedGen UID:
851405
Concept ID:
CN232558
Disease or Syndrome
13.

Seizure

MedGen UID:
506957
Concept ID:
CN178372
Disease or Syndrome
14.

Epileptic encephalopathy

MedGen UID:
452596
Concept ID:
C0543888
Disease or Syndrome
15.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
16.

Motor delay

A type of Developmental delay characterized by a delay in acquiring motor skills. [from HPO]

MedGen UID:
381392
Concept ID:
C1854301
Finding
17.

Encephalopathy

MedGen UID:
368408
Concept ID:
C1963101
Finding
18.

Generalized hypotonia

Generalized muscular hypotonia (abnormally low muscle tone). [from HPO]

MedGen UID:
346841
Concept ID:
C1858120
Finding
19.

Neonatal onset

Onset of signs or symptoms of disease within the first 28 days of life. [from HPO]

MedGen UID:
344421
Concept ID:
C1855106
Finding
20.

Central hypotonia

Reduced muscle tone secondary to an abnormality of the central nervous system. [from HPO]

MedGen UID:
330833
Concept ID:
C1842364
Finding
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