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2-Hydroxyglutaric Aciduria
CDS
Presentation
- To our knowledge, this case report is the first of l-2 hydroxyglutaric aciduria presenting with symptomatic eyelid myoclonia with absences.[ncbi.nlm.nih.gov]
Entire Body System
Death in Infancy
- Inherited metabolic disorders are the cause of a small but significant number of sudden unexpected deaths in infancy. We report a girl who suddenly died at 11 months of age, during an intercurrent illness.[ncbi.nlm.nih.gov]
Wheelchair Bound
- At the age of 15 years, when first examined in our Neurology Service, the patient was wheelchair bound and completely dependent, even for feeding.[doi.org]
Respiratoric
Inspiratory Stridor
- Additional findings, mainly occurring in the severe phenotype, are episodic vomiting, cardiomyopathy, inspiratory stridor and apnoeas. The most consistent MRI finding is enlargement of the lateral ventricles, occipital more than frontal.[ncbi.nlm.nih.gov]
Stridor
- Additional findings, mainly occurring in the severe phenotype, are episodic vomiting, cardiomyopathy, inspiratory stridor and apnoeas. The most consistent MRI finding is enlargement of the lateral ventricles, occipital more than frontal.[ncbi.nlm.nih.gov]
Gastrointestinal
Abdominal Pain
- Ten months after the initial evaluation, while at school, the patient experienced spontaneous abdominal pain and lower gastrointestinal tract bleeding. An emergency laparotomy confirmed a massive mesenteric thrombosis.[doi.org]
Episodic Vomiting
- Additional findings, mainly occurring in the severe phenotype, are episodic vomiting, cardiomyopathy, inspiratory stridor and apnoeas. The most consistent MRI finding is enlargement of the lateral ventricles, occipital more than frontal.[ncbi.nlm.nih.gov]
Cardiovascular
Thrombosis
- The patient died of a spontaneous mesenteric thrombosis. The postmortem neuropathological findings showed spongiosis and cystic cavitations in subcortical white matter, with minimal abnormalities of the basal ganglia.[ncbi.nlm.nih.gov]
- An interesting aspect in this case is the cause of death, mesenteric thrombosis, which is very rare in the pediatric age group 17 and was unexpected in this well-cared-for patient.[doi.org]
Palpitations
- He also complained of paroxysmal headache and palpitation. Brain image revealed a symmetrical, extensive subcortical white matter lesion.[ncbi.nlm.nih.gov]
Musculoskeletal
Acrocephaly
- We report an 8-year-old Chinese boy, who had characteristic developmental delay, ataxia and acrocephaly as the main symptoms. He also complained of paroxysmal headache and palpitation.[ncbi.nlm.nih.gov]
Platyspondyly
- The vertebral bodies revealed platyspondyly with irregular, stippled endplates. D-2-HGA has been described as a neurometabolic disorder manifesting a broad range of impairment in mental and motor development.[ncbi.nlm.nih.gov]
Face, Head & Neck
Broad Nasal Bridge
- A flat face with a broad nasal bridge and external ear anomalies were present in our patients and in reported cases.[ncbi.nlm.nih.gov]
- Facial dysmorphic features have been reported frequently and include a flat face with a broad nasal bridge, and external ear anomalies. In mild cases, the clinical picture is more variable.[orpha.net]
Psychiatrical
Psychiatric Symptoms
- We present a patient suffering from psychiatric symptoms with a metabolic disorder.[ncbi.nlm.nih.gov]
Neurologic
Clumsiness
- He had first presented at the age of 10 years with psychomotor delay, clumsy gait and moderate mental impairment. Examination showed macrocephaly, cerebellar ataxia and quadripyramidal syndrome.[ncbi.nlm.nih.gov]
- At 18 to 24 months, his gait had worsened, with limb clumsiness, language regression, and progressive intellectual deterioration.[doi.org]
Neglect
- Linster, Metabolite proofreading, a neglected aspect of intermediary metabolism, Journal of Inherited Metabolic Disease, 36, 3, (427-434), (2013).[doi.org]
Mild Cognitive Impairment
- A 19-year-old girl presented with ataxia, facial dyskinesia, and mild cognitive impairment.[ncbi.nlm.nih.gov]
Workup
Urine
Acanthocytes
- Blood smear did not show acanthocytes. The cerebrospinal fluid was acellular with normal protein and glucose levels.[doi.org]
Other Pathologies
White Matter Lesions
- Computed tomography and magnetic resonance imaging (MRI) of the brain showed characteristic white matter lesions, suggestive of L-2-hydroxyglutaric aciduria.[ncbi.nlm.nih.gov]
Treatment
- Because of the metabolism of D-2-hydroxyglutaric aciduria, we regard valproic acid as contraindicated in the treatment of epilepsy in this disease.[ncbi.nlm.nih.gov]
- Management and treatment There is no specific treatment for D-2-hydroxyglutaric aciduria. Management mainly involves control of seizures when they are present.[orpha.net]
- Treatment depends on the symptoms. Management mainly involves control of seizures when they are present. [2] Last updated: 4/7/2017[rarediseases.info.nih.gov]
Prognosis
- Prognosis The prognosis is entirely dependent on the severity of the clinical picture and course of the disease. The documents contained in this web site are presented for information purposes only.[orpha.net]
- The treatment of 2-Hydroxyglutaric aciduria is based on seizure control, the prognosis depends on how severe the condition is. 2-hydroxyglutarate synthase 2-hydroxyglutarate dehydrogenase Hydroxyacid-oxoacid transhydrogenase Alpha-Hydroxyglutaric acid[en.wikipedia.org]
- T1 : low signal T2/FLAIR : high signal GE/SWI : no susceptibility artefact DWI : increased diffusivity (consistent with spongiform change) T1 C (Gd) : no enhancement MR spectroscopy : decreased NAA and Cho peaks; increase mI; no lactate Treatment and prognosis[radiopaedia.org]
Etiology
- Genetic counseling is complicated due to the extremely wide clinical picture and poor understanding of the genetic etiology and underlying mechanisms.[orpha.net]
- […] d-2-hydroxyglutaric aciduria is a neurometabolic disorder with both a mild and a severe phenotype and with unknown etiology.[ncbi.nlm.nih.gov]
- Fazilet MD † ; Erol, İlknur MD ‡ doi: 10.1097/MPH.0b013e3181b258c6 Clinical and Laboratory Observations Abstract Author Information Authors Article Metrics Metrics Heritable diseases associated with childhood tumors are sometimes defined as a probable etiologic[journals.lww.com]
Epidemiology
- Summary Epidemiology Exact prevalence and incidence of this disorder are not known but about 80 cases have been reported to date. No geographical predominance has been found for this disorder.[orpha.net]
- Relevant External Links for D2HGDH Human Genome Epidemiology (HuGE) Navigator D2HGDH Atlas of Genetics and Cytogenetics in Oncology and Haematology: D2HGDH No data available for Genatlas for D2HGDH Gene Mutations in the D-2-hydroxyglutarate dehydrogenase[genecards.org]
Sex distribution
Age distribution
Pathophysiology
- These findings provide additional impetus for investigating the role of D-2-HG in the pathophysiology of metabolic disease and cancer.[ncbi.nlm.nih.gov]
- These findings provide additional impetus for investigating the role of D-2-HG in the pathophysiology of metabolic disease and cancer. View Full Text[doi.org]
Prevention
- It was verified that 50μM of D-2-HG and 30μM of L-2-HG significantly induced DNA damage that was prevented by 30 and 150μM of LC.[ncbi.nlm.nih.gov]
- Phenylketonuria (PKU) was then shown to be a treatable genetic disease in which early diagnosis and effective treatment prevented the disease (mental retardation) in PKU.[books.google.com]
- Mutations in the SLC25A1 gene reduce the protein's function, which prevents it from carrying out this transport.[ghr.nlm.nih.gov]
- The lack of this enzyme prevents cholesterol from being converted into a bile acid called chenodexoycholic acid.[rarediseases.org]