Nonketotic hyperglycinemia, NKH

Disease genes
GLDC gene, AMT gene
Sheng line rate
1/12, 000 (Finland); Taiwan no statistical data
Clinical symptoms

    Non-keto high glycine hyperlipidemia type can be divided into the newborn (neonatal type) and late-onset (late-onset type) categories.Neonatal type is more common in neurological symptoms within a few days after birth and rapid deterioration occurs, there will be low muscle tone, low Moro test reaction, epilepsy, suffocation, drowsiness or coma. Most of the patients will die within a few weeks, and after a period of time, there are still survivors of severe psychomotor developmental delay phenomenon. In addition, there may be various types of seizures cramps, ascending from myoclonic epilepsy epileptic seizures and so may occur, as well as the situation is also very common hiccup. Neonatal period there is no obvious low muscle tone, muscle stiffness will then gradually become.Late-onset cases in the neonatal period there will be no abnormal symptoms, then it will slowly develop various degrees of neurological symptoms, age of onset ranging from infancy to adolescence. [The above information is extracted from the rare disease Foundation]
    Nonketotic hyperglycinemia (NKH) is an autosomal recessive genetic disease that causes the glycine cleavage enzyme complex (glycine cleavage enzyme complex, referred GCS) abnormality, the enzyme from the P, T, H, L four proteins, the present study shows that nearly 80% NKH patients is due to the P protein abnormalities, while nearly 10-15% of patients with T protein abnormalities. P protein is glycine decarboxylase (GLDC) gene product; and T protein aminomethyltransferase (AMT) gene product.
Genetic model
Autosomal recessive

Test methods
GLDC gene, AMT gene sequence analysis
Specimen requirements
Adults: 3 ml of whole blood Prenatal: fluff (10mg or more), amniotic fluid (10ml) or umbilical cord blood (2ml)
Reporting schedule
2 weeks
Inspection Limitations
1 The molecular genetic testing to direct gene sequencing method to detect because patients or those with AMT in GLDC genes and gene exon (exon) region causative mutation has occurred, if the detection of large deletions or sequence of the region mutations can not be learned by the test.(2) If the cause of the disease in patients with non-gene cause, they can not detected by the test.3 reported accuracy was 97%, the results for physician clinical reference.