L-2-hydroxyglutaric aciduria

General Information (adopted from Orphanet):

Synonyms, Signs: L-2-HGA
l-2-hydroxyglutaric acidemia
Number of Symptoms 40
OrphanetNr: 79314
OMIM Id: 236792
ICD-10: E72.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 2-hydroxyglutaric aciduria
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
2
(HPO:0000639) Nystagmus 555 / 7739
3
(HPO:0000648) Optic atrophy 238 / 7739
4
(HPO:0000486) Strabismus 576 / 7739
5
(HPO:0000365) Hearing impairment 539 / 7739
6
(HPO:0002376) Developmental regression 74 / 7739
7
(HPO:0002071) Abnormality of extrapyramidal motor function Frequent [Orphanet] 76 / 7739
8
(HPO:0011442) Abnormality of central motor function Frequent [Orphanet] 76 / 7739
9
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
10
(HPO:0010864) Intellectual disability, severe 120 / 7739
11
(HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
12
(HPO:0002383) Encephalitis Very frequent [Orphanet] 41 / 7739
13
(HPO:0007256) Abnormal pyramidal signs 116 / 7739
14
(HPO:0100006) Neoplasm of the central nervous system Frequent [Orphanet] 34 / 7739
15
(HPO:0002357) Dysphasia 33 / 7739
16
(HPO:0001285) Spastic tetraparesis 29 / 7739
17
(HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
18
(HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
19
(HPO:0006887) Intellectual disability, progressive 68 / 7739
20
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
21
(OMIM) Cystic cavitation of the white matter 1 / 7739
22
(HPO:0001272) Cerebellar atrophy 197 / 7739
23
(HPO:0040144) L-2-hydroxyglutaric aciduria 3 / 7739
24
(OMIM) MRI shows subcortical leukoencephalopathy with cavitation 1 / 7739
25
(HPO:0007258) Severe demyelination of the white matter 1 / 7739
26
(HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
27
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
(HPO:0003593) Infantile onset 249 / 7739
29
(OMIM) Increased lysine in serum and CSF 1 / 7739
30
(OMIM) Neuropathologic examination shows extensive spongiosis and gliosis 1 / 7739
31
(HPO:0002352) Leukoencephalopathy 32 / 7739
32
(HPO:0002062) Morphological abnormality of the pyramidal tract 24 / 7739
33
(HPO:0002283) Global brain atrophy 12 / 7739
34
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
35
(OMIM) Choreodystonia of the upper limbs 1 / 7739
36
(OMIM) Increased L-2-hydroxyglutaric acid in urine, serum, and CSF 1 / 7739
37
(HPO:0040147) L-2-hydroxyglutaric acidemia 1 / 7739
38
(OMIM) Cerebellar atrophy in most cases 1 / 7739
39
(HPO:0002171) Gliosis 48 / 7739
40
(HPO:0007371) Corpus callosum atrophy 14 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Duran et al. (1980) reported a 5-year-old boy of Moroccan (Berber) origin who was investigated for nonspecific mental and motor delay and growth deficiency. The point of interest was a solitary, large, and persistent increase of L-2-hydroxyglutaric (2OHglu) ...
Molecular genetics OMIM In 21 patients with L-2-hydroxyglutaric aciduria (L2HGA) from 15 Turkish families, 14 of them consanguineous, Topcu et al. (2004) found 9 mutations in the L2HGDH gene (609584). The 9 mutations comprised 3 missense mutations, 2 nonsense mutations, 2 ...