About The Medical Condition Type III Nonketotic Hyperglycinemia
Find the definition of the medical term Type III Nonketotic Hyperglycinemia. Type III Nonketotic Hyperglycinemia defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Type III Nonketotic Hyperglycinemia
| Type III Nonketotic Hyperglycinemia Medical Condition |
|---|
What's The Definition Of The Medical Condition Type III Nonketotic Hyperglycinemia?
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
- Neoplasms, Intracranial ‐ Neoplasms of the intracranial components of the central nervous…
- Aujeszky Disease Virus ‐ A species of VARICELLOVIRUS producing a respiratory infection…
- Syndrome, Marchiafava-Micheli ‐ Disorder characterized by intravascular hemolysis and hemoglobinuria.…
- Hydrochloride, Methamphetamine ‐ A central nervous system stimulant and sympathomimetic with actions…
- Tumor, Medullary ‐ Benign and malignant intra-axial tumors of the MESENCEPHALON;…
- Massages, Heart ‐ Rhythmic compression of the heart by pressure applied manually…
- Proximal Renal Tubular Dysfunction ‐ Constellation of clinical and laboratory manifestations produced…
- Bite Force ‐ The force applied by the masticatory muscles in dental…
- HMSN Type IIs ‐ A hereditary motor and sensory neuropathy transmitted most often…
- Drug Recall ‐ Control of drug and narcotic use by international agreement,…