Here I present: “Nonketotic Hyperglycinemia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 非酮症性高糖苷血癥。(NKH).
INTRODUCTION.
Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism characterized by accumulation of a large amount of glycine in body fluids. Typical cases have severe neurologic features, including seizures, lethargy, and muscular hypotonia soon after birth, and most die within the neonatal period.
Nonketotic Hyperglycinemia (NKH) is caused by homozygous or compound heterozygous mutation in the AMT gene, on cytogenetic location 3p21.31 and genomic coordinates 3:49,416,778-49,422,473. The screenshot of the aminomethyltransferase AMT (EC# 2.1.2.10) gene 5,696 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides AMT in the 3p21.31 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 3:49,277,144 | USP4 | Ubiquitin-specific protease-4 |
| 3:49,357,176 | GPX1 | Glutathione peroxidase-1 |
| 3:49,359,145 | RHOA | Ras gene, member A (oncogene RHO H12) |
| 3:49,412,423 | TCTA | T-cell leukemia translocation altered gene |
| 3:49,416,778 | AMT | Aminomethyltransferase |
| 3:49,422,333 | NICN1 | Nicolin 1 |
| 3:49,468,948 | DAG1 | Dystrophin-associated glycoprotein-1 |
| 3:49,554,477 | BSN | Bassoon presynaptic cytomatrix protein |
| 3:49,673,117 | APEH | N-acylaminoacyl-peptide hydrolase |
| 3:49,683,947 | MST1 | Macrophage-stimulating-1 |
| Coordinate | Symbol | Genomic Name |
