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Items: 1 to 20 of 28

1.

Nonketotic hyperglycinemia

MedGen UID:
506202
Concept ID:
CN007287
Finding
2.

Non-ketotic hyperglycinemia

Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an inborn error of glycine metabolism defined by deficient activity of the glycine cleavage enzyme and, as a consequence, accumulation of large quantities of glycine in all body tissues including the brain. The majority of glycine encephalopathy presents in the neonatal period (85% as the neonatal severe form and 15% as the neonatal attenuated form). Of those presenting in infancy, 50% have the infantile attenuated form and 50% have the infantile severe form. Overall, 20% of all children presenting as either neonates or infants have a less severe outcome, defined as developmental quotient greater than 20. A minority of patients have mild or atypical forms of glycine encephalopathy. The neonatal form manifests in the first hours to days of life with progressive lethargy, hypotonia, and myoclonic jerks leading to apnea and often death. Surviving infants have profound intellectual disability and intractable seizures. The infantile form is characterized by hypotonia, developmental delay, and seizures. The atypical forms range from milder disease, with onset from late infancy to adulthood, to rapidly progressing and severe disease with late onset. [from GeneReviews]

MedGen UID:
155625
Concept ID:
C0751748
Disease or Syndrome
3.

Hyperglycinemia

An elevated concentration of glycine in the blood. [from HPO]

MedGen UID:
82817
Concept ID:
C0268559
Disease or Syndrome
4.

Glycine

A non-essential, non-polar, non-optical, glucogenic amino acid. Glycine, an inhibitory neurotransmitter in the CNS, triggers chloride ion influx via ionotropic receptors, thereby creating an inhibitory post-synaptic potential. In contrast, this agent also acts as a co-agonist, along with glutamate, facilitating an excitatory potential at the glutaminergic N-methyl-D-aspartic acid (NMDA) receptors. Glycine is an important component and precursor for many macromolecules in the cells. [from NCI]

MedGen UID:
6636
Concept ID:
C0017890
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
5.

Accumulation

An increase of substance (e.g., proteinaceous fluid and glycogen) in either the intracellular space, extracellular space, or within a hollow organ or structure. [from NCI_CDISC]

MedGen UID:
883922
Concept ID:
C4055506
Finding
6.

Late onset

A type of adult onset with onset of symptoms after the age of 60 years. [from HPO]

MedGen UID:
871123
Concept ID:
C4025592
Qualitative Concept; Temporal Concept
7.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
8.

Inborn error of metabolism

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

MedGen UID:
6323
Concept ID:
C0025521
Congenital Abnormality; Disease or Syndrome
9.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
10.

Brain Diseases, Metabolic, Inborn

Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. [from MeSH]

MedGen UID:
156005
Concept ID:
C0752109
Disease or Syndrome
11.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
12.

Mutagenesis Process

OBSOLETE. The process by which genetic material undergoes a detectable and heritable structural change. There are three categories of mutation: genome mutations, involving addition or subtraction of one or more whole chromosomes; chromosome mutations, which alter the structure of chromosomes; and gene mutations, where the structure of a gene is altered at the molecular level. [ISBN:0198506732] [from GO]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
13.

Nutritional and Metabolic Diseases

A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. [from MeSH]

MedGen UID:
45164
Concept ID:
C0028715
Disease or Syndrome
14.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy. You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
15.

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
16.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
17.

Disorder of brain

The brain is the control center of the body. It controls thoughts, memory, speech, and movement. It regulates the function of many organs. When the brain is healthy, it works quickly and automatically. However, when problems occur, the results can be devastating. . Inflammation in the brain can lead to problems such as vision loss, weakness and paralysis. Loss of brain cells, which happens if you suffer a stroke, can affect your ability to think clearly. Brain tumors can also press on nerves and affect brain function. Some brain diseases are genetic. And we do not know what causes some brain diseases, such as Alzheimer's disease. The symptoms of brain diseases vary widely depending on the specific problem. In some cases, damage is permanent. In other cases, treatments such as surgery, medicines, or physical therapy can correct the source of the problem or improve symptoms. .  [from MedlinePlus]

MedGen UID:
14214
Concept ID:
C0006111
Disease or Syndrome
18.

Pregnancy

So you're going to have a baby! Whether you are pregnant or are planning to get pregnant, you will want to give your baby a healthy start. You need to have regular visits with your healthcare provider. These prenatal care visits are very important for your baby and yourself. Some things you might do when you are pregnant could hurt your baby, such as smoking or drinking. Some medicines can also be a problem, even ones that a doctor prescribed. You will need to drink plenty of fluids and eat a healthy diet. You may also be tired and need more rest. Your body will change as your baby grows during the nine months of your pregnancy. Don't hesitate to call your health care provider if you think you have a problem or something is bothering or worrying you. .  [from MedlinePlus]

MedGen UID:
10895
Concept ID:
C0032961
Organism Function
19.

Morphological abnormality of the central nervous system

A structural abnormality of the central nervous system. [from HPO]

MedGen UID:
3306
Concept ID:
C0007682
Disease or Syndrome
20.

Disorder of amino acid metabolism

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body. If you have a metabolic disorder, something goes wrong with this process. One group of these disorders is amino acid metabolism disorders. They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are building blocks that join together to form proteins. If you have one of these disorders, your body may have trouble breaking down certain amino acids. Or there may be a problem getting the amino acids into your cells. These problems cause a buildup of harmful substances in your body. That can lead to serious, sometimes life-threatening, health problems. These disorders are usually inherited. A baby who is born with one may not have any symptoms right away. Because the disorders can be so serious, early diagnosis and treatment are critical. Newborn babies get screened for many of them, using blood tests. Treatments may include special diets, medicines, and supplements. Some babies may also need additional treatments if there are complications.  [from MedlinePlus]

MedGen UID:
1867
Concept ID:
C0002514
Disease or Syndrome
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