Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.
Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.
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DOI：
10.1016/j.braindev.2020.04.008
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发表时间：
2020-08
影响因子：
1.7
通讯作者：
Yis U
中科院分区：
文献类型：
--
作者：
Paketci C;Edem P;Hiz S;Sonmezler E;Soydemir D;Sarikaya Uzan G;Oktay Y;O'Heir E;Beltran S;Laurie S;Töpf A;Lochmuller H;Horvath R;Yis U
Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far. Here, we report two siblings with dysmorphic features, growth retardation, microcephaly, intractable epilepsy, and hemangioma in the frontal, occipital and lumbosacral regions. We studied two siblings by whole exome sequencing. A pathogenic variant in ALG3 (NM_005787.6: c.165C>T; p.Gly55=) that had been previously associated with congenital glycolysis defect type 1d was identified. Their intractable seizures was controlled by ketogenic diet. Although prominent findings of growth retardation and microcephaly seen in our patients have been extensively reported before, presence of hemangioma is a novel finding that may be used as an indication for ALG3-CDG diagnosis. Our patients are the first reported cases whose intractable seizures were controlled with ketogenic diet. This report adds ketogenic diet as an option for treatment of intractable epilepsy in ALG3-CDG.
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影响因子：
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DOI：
10.1007/8904_2015_497
发表时间：
2016-01-01
期刊：
JIMD REPORTS, VOL 27
影响因子：
--
作者：
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通讯作者：
Jaeken, Jaak