About The Medical Condition Hyperglycinemias, Nonketotic
Find the definition of the medical term Hyperglycinemias, Nonketotic. Hyperglycinemias, Nonketotic defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Hyperglycinemias, Nonketotic
| Hyperglycinemias, Nonketotic Medical Condition |
|---|
What's The Definition Of The Medical Condition Hyperglycinemias, Nonketotic?
An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system; an enzyme system with four components: P-, T-, H-, and L-proteins. Deficiency of the P-protein is the most prevalent form. Neonatal and juvenile presentations have been reported. Neonatal onset is more common and may be fatal. Clinical features include SEIZURES; hypotonia; APNEA; and COMA. When the illness presents in childhood there tends to be an associated progressive DEMENTIA accompanied by extrapyramidal signs. (Menkes, Textbook of Child Neurology, 5th ed, p46; Jpn J Hum Genet 1997 Mar;42(1):13-22)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Meningeal Cancers ‐ Benign and malignant neoplastic processes that arise from or…
- Parenthood Status ‐ Persons functioning as natural, adoptive, or substitute parents.…
- Relationships, Drug Dose-Response ‐ The relationship between the dose of an administered drug and…
- Protein Inducer MGI ‐ Glycoproteins found in a subfraction of normal mammalian plasma…
- Lichen Nitidus ‐ A chronic inflammatory disease characterized by shiny, flat-topped,…
- Bone, Carpal ‐ The eight bones of the wrist: capitate bone, hamate bone, lunate…
- Apolipoprotein A-I ‐ The major protein component of high density lipoproteins. It…
- Reviews, Continued Stay ‐ Review of the medical necessity of hospital or other health facility…
- CCAAT-Enhancer-Binding Protein ‐ A class of proteins that were originally identified by their…
- Levonorepinephrine ‐ Precursor of epinephrine that is secreted by the adrenal medulla…