Glycine encephalopathy

General Information (adopted from Orphanet):

Synonyms, Signs: TNH, INCLUDED
HYPERGLYCINEMIA, NONKETOTIC
NKH HYPERGLYCINEMIA, TRANSIENT NEONATAL, INCLUDED
GCE
Non-ketotic hyperglycinemia
Number of Symptoms 27
OrphanetNr: 407
OMIM Id: 605899
ICD-10: E72.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.17 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Amino acid or protein metabolism disease with epilepsy
 -Rare neurologic disease
Disorder of serine or glycine metabolism
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0003108) Hyperglycinuria 11 / 7739
2
(HPO:0001250) Seizures 1245 / 7739
3
(HPO:0001298) Encephalopathy 72 / 7739
4
(HPO:0000737) Irritability 93 / 7739
5
(HPO:0000752) Hyperactivity 140 / 7739
6
(HPO:0001249) Intellectual disability 1089 / 7739
7
(HPO:0001336) Myoclonus 115 / 7739
8
(HPO:0000711) Restlessness 18 / 7739
9
(HPO:0001347) Hyperreflexia 363 / 7739
10
(HPO:0100710) Impulsivity 16 / 7739
11
(HPO:0000718) Aggressive behavior 109 / 7739
12
(HPO:0001254) Lethargy 104 / 7739
13
(HPO:0100247) Recurrent singultus 7 / 7739
14
(HPO:0002154) Hyperglycinemia 12 / 7739
15
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
16
(HPO:0001324) Muscle weakness 859 / 7739
17
(HPO:0010547) Muscle flaccidity 466 / 7739
18
(HPO:0001252) Muscular hypotonia 990 / 7739
19
(OMIM) Elevated CSF/plasma glycine ratio 1 / 7739
20
(OMIM) Elevated CSF glycine 1 / 7739
21
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
(HPO:0001522) Death in infancy 275 / 7739
23
(OMIM) Hepatic glycine cleavage defect 1 / 7739
24
(OMIM) Expressive speech deficit 1 / 7739
25
(OMIM) Burst suppression pattern on neonatal EEG 1 / 7739
26
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
27
(OMIM) Hyporeflexia to hyperreflexia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis OMIM Applegarth and Toone (2001) reviewed the laboratory diagnosis of glycine encephalopathy and confirmed 9 mutations in the T protein and 8 mutations in the P protein.

Tan et al. (2007) reported that they screened 733,527 babies ...

Clinical Description OMIM - Classic Neonatal Form

Most patients with GCE have the neonatal phenotype, presenting in the first few days of life with lethargy, hypotonia, and myoclonic jerks, and progressing to apnea, and often to death. Those who ...

Population genetics OMIM A high frequency of glycine encephalopathy has been found in Finland; the incidence has been estimated to be 1 in 55,000 newborns overall, and 1 in 12,000 in northern Finland (von Wendt and Simila, 1980; Boneh et al., ...