Oxoglutaricaciduria

General Information (adopted from Orphanet):

Synonyms, Signs: OXOGLUTARIC ACIDURIA
ALPHA-KGD DEFICIENCY
2-&#64
KETOGLUTARATE DEHYDROGENASE DEFICIENCY
Alpha-ketoglutarate dehydrogenase deficiency
Number of Symptoms 20
OrphanetNr: 31
OMIM Id: 203740
ICD-10: E88.8
UMLs: C2752074
MeSH: C536582
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Mitochondrial disease with epilepsy
 -Rare neurologic disease
Mitochondrial disease with peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Tricarboxylic acid cycle disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001992) Organic aciduria Very frequent [Orphanet] 28 / 7739
2
 (HPO:0010286) Abnormality of the salivary glands Frequent [Orphanet] 7 / 7739
3
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
4
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
5
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
6
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
7
 (HPO:0001942) Metabolic acidosis 81 / 7739
8
 (HPO:0004902) Congenital lactic acidosis 2 / 7739
9
 (HPO:0002151) Increased serum lactate 92 / 7739
10
 (HPO:0001252) Muscular hypotonia 990 / 7739
11
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
12
 (HPO:0010547) Muscle flaccidity 466 / 7739
13
 (HPO:0001324) Muscle weakness 859 / 7739
14
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
 (OMIM) Alpha-ketoglutarate dehydrogenase deficiency 1 / 7739
17
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
18
 (OMIM) Hyperlactatemia 3 / 7739
19
 (HPO:0003819) Death in childhood 42 / 7739
20
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739

Associated genes:

OGDH;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kohlschutter et al. (1982) reported a case of partial alpha-ketoglutarate dehydrogenase deficiency in 2 sibs of a consanguineous Tunisian family. In addition to genetic defects of the tricarboxylic acid cycle, other mechanisms for recessively inherited congenital lactic acidosis include ...