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1.

Argininosuccinate lyase deficiency

Deficiency of argininosuccinate lyase (ASL), the enzyme that cleaves argininosuccinic acid to produce arginine and fumarate in the fourth step of the urea cycle, is characterized by a severe neonatal onset form and a late onset form. The severe neonatal onset form, which is indistinguishable from that of other urea cycle disorders, is characterized by hyperammonemia within the first few days after birth accompanied by vomiting, lethargy, hypothermia, and poor feeding. In the absence of treatment, lethargy, seizures, and coma worsen, resulting in death. In contrast, the late onset form ranges from episodic hyperammonemia triggered by acute infection or stress to cognitive impairment, behavioral abnormalities, and/or learning disabilities in the absence of any documented episodes of hyperammonemia. Manifestations of ASL deficiency that appear to be unrelated to the severity or duration of hyperammonemic episodes include: (1) neurocognitive deficiencies (attention deficit hyperactivity disorder [ADHD], developmental disability, seizures, and learning disability); (2) liver disease (hepatitis, cirrhosis); (3) trichorrhexis nodosa (coarse brittle hair that breaks easily); and (4) systemic hypertension. [from GeneReviews]

MedGen UID:
78687
Concept ID:
C0268547
Disease or Syndrome
2.

Coma

A coma is a deep state of unconsciousness. An individual in a coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as brain injury. A coma rarely lasts more than 2 to 4 weeks. The outcome for coma depends on the cause, severity, and site of the damage. People may come out of a coma with physical, intellectual, and psychological problems. Some people may remain in a coma for years or even decades. For those people, the most common cause of death is infection, such as pneumonia. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
1054
Concept ID:
C0009421
Disease or Syndrome
3.

Delay

MedGen UID:
879911
Concept ID:
CN235300
Finding
4.

Seizure disorder

MedGen UID:
832927
Concept ID:
CN228288
Finding
5.

Vomiting

MedGen UID:
776588
Concept ID:
C2712332
Finding
6.

Seizure

MedGen UID:
506957
Concept ID:
CN178372
Disease or Syndrome
7.

Hepatomegaly

Abnormally increased size of the liver. [from HPO]

MedGen UID:
505165
Concept ID:
CN002031
Finding
8.

Hepatic fibrosis

The presence of fibrosis of the liver tissue. [from HPO]

MedGen UID:
504827
Concept ID:
CN001276
Finding
9.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
504774
Concept ID:
CN001157
Finding
10.

Coma

Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. [from HPO]

MedGen UID:
446396
Concept ID:
CN001154
Finding
11.

Seizures

MedGen UID:
409523
Concept ID:
C1959629
Finding
12.

Encephalopathy

MedGen UID:
368408
Concept ID:
C1963101
Finding
13.

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
14.

Electroencephalographic pattern, beta frequency, quantitative trait locus

Since the initial discovery of the human electroencephalogram (EEG) by Berger (1929), it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action (Haenschel et al., 2000; summary by Porjesz et al., 2002). [from OMIM]

MedGen UID:
342078
Concept ID:
C1851758
Finding
15.

Episodic vomiting

Paroxysmal, recurrent episodes of vomiting. [from HPO]

MedGen UID:
333228
Concept ID:
C1838993
Finding
16.

Mild

Mild; asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated. [from SNOMEDCT_US]

MedGen UID:
268697
Concept ID:
C1513302
Finding
17.

Hepatic fibrosis

The presence of fibrosis of the liver tissue. [from HPO]

MedGen UID:
116093
Concept ID:
C0239946
Disease or Syndrome
18.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
107838
Concept ID:
C0557874
Finding; Finding
19.

Learning difficulties

MedGen UID:
98414
Concept ID:
C0424939
Finding
20.

Developmental delay

Failure to meet, or late achievement of developmental milestones. [from NCI]

MedGen UID:
98410
Concept ID:
C0424605
Mental or Behavioral Dysfunction
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