Abstract
3-methylglutaconic aciduria includes a heterogeneous group of inborn errors of metabolism. The disease may have various clinical presentations, as can duplication 5q. We present the case of a 13-year-old boy with 3-methylglutaconic aciduria and duplication 5q. The main symptoms included myopathy, weakness, spastic paresis intensified mostly in the lower limbs, and intellectual disability. Additional studies showed elevated levels of 3-methylglutaconic acid in urine and ammonia in plasma. A duplication in region 5q23.3q31.1 was found in array-based comparative genomic hybridization. Next-generation sequencing did not reveal any pathological mutation. On the basis of the clinical picture and the results of biochemical and genetic tests 3-methylglutaconic aciduria type IV with duplication 5q was diagnosed.
MeSH terms
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Abnormalities, Multiple / blood
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Abnormalities, Multiple / diagnosis*
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Abnormalities, Multiple / urine
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Adolescent
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Ammonia / blood
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Chromosomes, Human, Pair 5 / genetics
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Comparative Genomic Hybridization
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Cri-du-Chat Syndrome / complications*
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Cri-du-Chat Syndrome / diagnosis*
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Cri-du-Chat Syndrome / genetics
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Glutarates / urine
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High-Throughput Nucleotide Sequencing
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Humans
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Male
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Metabolism, Inborn Errors / blood
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Metabolism, Inborn Errors / complications*
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Metabolism, Inborn Errors / diagnosis*
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Metabolism, Inborn Errors / urine
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Rare Diseases / blood
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Rare Diseases / complications
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Rare Diseases / diagnosis
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Rare Diseases / urine
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Trisomy / diagnosis*
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Trisomy / genetics
Substances
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Glutarates
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3-methylglutaconic acid
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Ammonia
Supplementary concepts
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3-Methylglutaconic Aciduria Type IV
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Chromosome 5, trisomy 5q