Glutaric aciduria in progressive choreo‐athetosis

Brandt, N. J.; Brandt, Sven; Christensen, Ernst; Gregersen, N.; Rasmussen, Karsten

doi:10.1111/j.1399-0004.1978.tb04131.x

Cited by 32 publications

(2 citation statements)

References 9 publications

(8 reference statements)

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“…The 76 studies included in this review [ 16 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 ] were published between 1964 [ 39 ] and 2022 [ 80 ] and were conducted in various countries (Table S2). Of these, 30 were case reports, and 46 were case series.…”

Section: Resultsmentioning

confidence: 99%

“…Chorea was present in 156 patients (90.1% of the cohort). Athetosis was observed in 10 patients (5.7%), including glutaric aciduria type 1, Lesch Nyhan syndrome and AADC deficiency (Aromatic L-amino acid decarboxylase deficiency) [ 35 37 57 67 ]. Seven patients (4.0%) displayed intermittent episodes of both chorea and athetosis [ 40 58 65 69 76 79 ], including those with nonketotic hyperglycinemia, neuronal ceroid lipofuscinosis, hereditary hemochromatosis type 1, GABA transaminase deficiency and ornithine transcarbamylase deficiency ( Figure 1C ).…”

Section: Resultsmentioning

confidence: 99%

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Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism

Ortigoza-Escobar

2023

TOHM

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Background: Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this context, comprehensive descriptions of movement disorders are limited and primarily derived from single cases or small patient series, highlighting the need for increased awareness and additional research in this field. Methods: A systematic review was conducted using the MEDLINE database and GeneReviews. The search included studies on inborn errors of metabolism associated with chorea, athetosis, or ballismus. The review adhered to PRISMA guidelines. Results: The systematic review analyzed 76 studies out of 2350 records, encompassing the period from 1964 to 2022. Chorea was observed in 90.1% of the 173 patients, followed by athetosis in 5.7%. Various inborn errors of metabolism showed an association with chorea, with trace elements and metals being the most frequent. Cognitive and developmental abnormalities were common in the cohort. Frequent neurological features included seizures, dysarthria, and optic atrophy, whereas non-neurological features included, among others, facial dysmorphia and failure to thrive. Neuroimaging and biochemical testing played crucial roles in aiding diagnosis, revealing abnormal findings in 34.1% and 47.9% of patients, respectively. However, symptomatic treatment efficacy for movement disorders was limited. Discussion: This study emphasizes the complexities of chorea in inborn errors of metabolism. A systematic approach with red flags, biochemical testing, and neuroimaging is required for diagnosis. Collaboration between neurologists, geneticists, and metabolic specialists is crucial for improving early detection and individualized treatment. Utilizing genetic testing technologies and potential therapeutic avenues can aid in the improvement of patient outcomes.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism

Ortigoza-Escobar

2023

TOHM

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A new X‐linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness

Schimke¹,

Horton²,

Collins³

et al. 1984

Am. J. Med. Genet.

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We report on 4 boys (3 in one family) who have a remarkably constant syndrome of childhood-onset choreoathetosis with later spasticity, postnatal microcephaly, growth and mental retardation, apparent external ophthalmoplegia and varying degrees of deafness. The pedigrees are consistent with X-linked inheritance. The syndrome is compared and contrasted with others comprising basal ganglion dysfunction in childhood. It is concluded that clinically and genetically the condition is unique.

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Metabolic Disorders

Patay

2005

Pediatric Neuroradiology

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Glutaric aciduria in progressive choreo‐athetosis

Cited by 32 publications

References 9 publications

Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism

Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism

A new X‐linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness

Metabolic Disorders

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