J Korean Pediatr Soc.  2000 Jul;43(7):993-999.

A Case of Korean Patient with Noketotic Hyperglycinemia: Diagnosed Based on CSF Amino Acid Analysis and Magnetic Resonance Spectroscopy

• Park KY
• Kim AR
• Kim KS
• Pi SY
• Ko TS
• Lee JH
• Yoo HW

Abstract

Nonketotic hyperglycinemia is an extremely rare congenital metabolic disorder, which is caused by the lack of a glycine cleavage system. The onset of hyperglycinemic symptom is during the neonatal or early infant period. Progressing grave neuromotor dysfunction is one of the main symptoms. They include myoclonic seizure, hiccup, apnea, decreased deep tendon reflex, lethargy and coma. The prognosis is mostly very poor. Furtherrnore, there aren't any effective treatments for nonketotic hyperglycinemia. To our knowledge, there has been no reported case of nonketotic hyperglycinemia in Korea. We experienced a case of nonketotic hyperglycinemia in a three-day- old boy, who had manifested with intractable seizure, mental alteration, apnea, hiccup and feeding intolerance. Unfortunately, he died of intractable seizure and neuromotor dysfunction at 20 days after birth. We could make an early diagnosis on the basis of clinical suspicion and high glycine signal in both cerebral white matter and basal ganglias with magnetic resonance spectroscopy (MRS), before amino acid analyses of serum and cerebrospinal fluid(CSF) were obtained. We report a Korean case of nonketotic hyperglycinemia with a brief review of literatures.

Keyword

Nonketotic hyperglycinemia(NKH); Magnetic resonance spectroscopy(MRS)

MeSH Terms

Apnea
Basal Ganglia
Coma
Early Diagnosis
Glycine
Hiccup
Humans
Hyperglycinemia, Nonketotic
Infant
Korea
Lethargy
Magnetic Resonance Spectroscopy*
Male
Parturition
Prognosis
Reflex, Stretch
Seizures
Glycine