Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey

Bozacı, Ayşe Ergül; Er, Esra; Ünal, Aysel Tekmenuray; Taş, İbrahim; Ayaz, Ercan; Özbek, Mehmet Nuri; Durmaz, Asude; Aykut, A; Köse, Melis

doi:10.1016/j.ymgmr.2023.100979

Cited by 3 publications

(5 citation statements)

References 24 publications

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“…This variant c.569C>T has been only once reported in an Iranian patient showing intellectual disability and epilepsy [16]. Previous studies with extensive families from different populations and ethnicities have not recorded our mutation [7,17]. According to http:// www.LOVD.nl/L2HGDH missense mutations are the most frequent changes, in about 32%.…”

Section: Discussionmentioning

confidence: 95%

“…Our patient showed classical MRI findings which was a clue to conduct the next diagnostic studies. Typically, abnormalities of predominantly subcortical cerebral white matter in combination with abnormalities of the dentate nucleus, globus pallidus, putamen, and caudate nucleus has been described in L2HGA [1][2][3][4][5]7] In a large series of 56 patients, the appearance of the MRI abnormalities was characterized by more global and confluent abnormalities of the cerebral white matter, caudate nucleus, and putamen, and by atrophy of the cerebral white matter and cerebellar hemispheres [8]. The differential diagnosis of L2HGA includes D-2 hydroxyglutaric aciduria (D2HGA) and combined L2HGA and D2HG (D, L-2-HGA).…”

Section: Discussionmentioning

confidence: 99%

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L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine

Leal-Ortega,

Parra-Medina,

González-Herrera

2024

Tremor and Other Hyperkinetic Movements

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Background: L-2-hydroxyglutaric aciduria (L2HGA) is a rare inherited autosomal recessive neurometabolic disorder caused by pathogenic variants in the L2HGDH gene which encodes mitochondrial 2-hydroxyglutarate dehydrogenase. Here, we report a case of L2HGA in a Mexican-Mayan patient with a homozygous mutation at L2HGDH gene and clinical response to vitamin supplements and levocarnitine.Case report: A 17-year-old, right-handed female patient with long-term history of seizures, developmental delay and ataxia was referred to a movement disorders specialist for the evaluation of tremor. Her brain MRI showed typical findings of L2HGA. The diagnosis was corroborated with elevated levels of 2-hydroxyglutaric acid in urine and genetic test which revealed a homozygous genetic known variant c.569C>T in exon 5 of L2HGDH gene. She was treated with levocarnitine and vitamin supplements, showing improvement in tremor and gait.Discussion: To our knowledge this is the first report of a Mexican patient with L2HGA. This case adds information about a rare condition in a different ethnic group and supports the findings of other authors which encountered symptomatic improvement with the use of flavin adenine dinucleotide (and its precursor riboflavin), and levocarnitine. Highlights:We report the first case of Mexican-Mayan patient with L2HGA showing a missense homozygous mutation in L2HGDH gene, and improvement of symptoms with vitamin supplements and levocarnitine.

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Section: Discussionmentioning

confidence: 95%

Section: Discussionmentioning

confidence: 99%

L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine

Leal-Ortega,

Parra-Medina,

González-Herrera

2024

Tremor and Other Hyperkinetic Movements

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“…The c.164G>A mutation was previously reported only in Turkish patients. 10 Thus far, there has been no definitive treatment. Some patients may benefit from Riboflavin and L-carnitine (even in adulthood), physical therapy, and rehabilitation.…”

Section: Discussionmentioning

confidence: 99%

From Shadows to Diagnosis: Unraveling L-2 Hydroxyglutaric Aciduria in Adulthood

Demirel Özbek,

Nezerli,

Akar

et al. 2024

ArchEpilepsy

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“…Mixed movement disorder, including chronic chorea, may also be present in glutaric aciduria type 1 (GA1), an autosomal recessive condition caused by pathogenic variants of the glutaryl CoA dehydrogenase ( GCDH ) gene. The estimated incidence of GA1 is 1/30,000–110,000 worldwide [ 34 ]. This neurometabolic condition is characterized by impaired catabolism of lysine, hydroxylysine, and tryptophane, with a consequent accumulation of 3-hydroxyglutaric acid and glutaric acid, leading to neuronal death through excitotoxicity [ 35 ].…”

Section: Primary Choreamentioning

confidence: 99%

“…It has a poor prognosis, due to metabolic crises and progressive deterioration. In countries without newborn screening, clinical suspicion is essential for diagnosing cerebral organic aciduria [ 34 ]. In most patients, the mixed movement disorder presents with generalized dystonia and occasional generalized chorea.…”

Section: Primary Choreamentioning

confidence: 99%

Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment

Spoto,

Ceraolo,

Butera

et al. 2024

CIMB

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Chorea is a hyperkinetic movement disorder frequently observed in the pediatric population, and, due to advancements in genetic techniques, an increasing number of genes have been associated with this disorder. In genetic conditions, chorea may be the primary feature of the disorder, or be part of a more complex phenotype characterized by epileptic encephalopathy or a multisystemic syndrome. Moreover, it can appear as a persistent disorder (chronic chorea) or have an episodic course (paroxysmal chorea). Managing chorea in childhood presents challenges due to its varied clinical presentation, often involving a spectrum of hyperkinetic movement disorders alongside neuropsychiatric and multisystemic manifestations. Furthermore, during infancy and early childhood, transient motor phenomena resembling chorea occurring due to the rapid nervous system development during this period can complicate the diagnosis. This review aims to provide an overview of the main genetic causes of pediatric chorea that may manifest during infancy and early childhood, focusing on peculiarities that can aid in differential diagnosis among different phenotypes and discussing possible treatment options.

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Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey

Cited by 3 publications

References 24 publications

L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine

L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine

From Shadows to Diagnosis: Unraveling L-2 Hydroxyglutaric Aciduria in Adulthood

Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment

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