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
- Post-Trauma Comas ‐ Prolonged unconsciousness from which the individual cannot be…
- Constrictions, Bronchial ‐ Diminution of the caliber of a bronchus physiologically or as…
- Monitoring, Ecological ‐ The monitoring of the level of toxins, chemical pollutants, microbial…
- Fetal Tissue Transplantations ‐ Transference of fetal tissue between individuals of the same…
- Nuclear Medicine ‐ A specialty field of radiology concerned with diagnostic, therapeutic,…
- Syndrome, Euthyroid Sick ‐ Abnormalities in thyroid hormone and thyroid-stimulating hormone…
- Organisms, Pathogen-Free ‐ Animals or humans raised in the absence of a particular disease-causing…
- Pregnancy-Associated Choreoathetoses ‐ A rare disorder characterized by the development of chorea, athetosis,…
- Service, Advisory ‐ Individuals referred to for expert or professional advice or…
- DMF Index ‐ "Decayed, missing and filled teeth," a routinely used statistical…