Is NKH a terminal?

Our son ELLIOT was diagnosed with a very rare metabollic disease NKH Non ketotic Hyperglycinemia (glycine) There are 500 children in the world who have NKH. Its is terminal & incurable most children dont make it past the neonate stage and those who do are severely disabled with uncontrollable seizures.

What is Nonketotic hyperglycinemia?

Nonketotic hyperglycinemia is a disorder characterized by abnormally high levels of a molecule called glycine in the body (hyperglycinemia). The excess glycine builds up in tissues and organs, particularly the brain. Affected individuals have serious neurological problems.

How rare is Nonketotic hyperglycinemia?

NKH, also called glycine encephalopathy, is an inborn error of metabolism characterized by the accumulation of large amounts of glycine in blood, urine and cerebrospinal fluid (CSF). It affects 1 child in every 60,000 born and differs in regards to disease severity and age of onset.

What does NKH mean?

Conditions Nonketotic Hyperglycinemia. Nonketotic hyperglycinemia (NKH) is an inherited condition in which the body is unable to breakdown and process some of the building blocks of protein (amino acids). It is considered an amino acid condition because it can lead to high levels of the amino acidglycine in the body.

Are there any treatments for nonketotic hyperglycinemia?

However, there are treatments that can improve outcomes. Sodium benzoate is used to reduce serum glycine levels. Benzoate binds to glycine in the body to form hippurate, which is excreted in the urine. This treatment reduces seizures and improves alertness.

What is nonketotic hyperglycinemia ( NKH ) in children?

What is Nonketotic Hyperglycinemia (NKH)? Nonketotic Hyperglycinemia (NKH) is a metabolic disorder in children which prevents their little bodies from processing glycine. NKH usually affects infants and children, appearing shortly after birth. It is a genetic disorder and is inherited from both parents.

Are there any cases of transient neonatal hyperglycinemia?

Transient neonatal hyperglycinemia has been described in a very small number of cases. Initially, these patients present with the same symptoms and laboratory results that are seen in the classical presentation.

Is there a curative treatment for NKH in pregnancy?

Prenatal diagnosis is available when familial mutations are known. There is no curative treatment for NKH. However, there are treatments that can improve outcomes. Sodium benzoate is used to reduce serum glycine levels. Benzoate binds to glycine in the body to form hippurate, which is excreted in the urine.