Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up

Satoshi Ekuni; Kei Hirayama; Miwako Nagasaka; Keita Osumi; Hidehito Kondo; Erina Nakahara; Keiko Shimojima Yamamoto; Hitoshi Kanno; Yoshinori Katayama

doi:10.12659/AJCR.938396

13 April 2023 : Case report Japan

Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up

Rare disease

Satoshi Ekuni^1ABCDEF, Kei Hirayama^2ABCDEF, Miwako Nagasaka^1ADEF*, Keita Osumi

^1BCDEF, Hidehito Kondo^2BCDEF, Erina Nakahara

^34CDE, Keiko Shimojima Yamamoto

^3CDE, Hitoshi Kanno

^3CDEFG, Yoshinori Katayama^1DEF

DOI: 10.12659/AJCR.938396

Am J Case Rep 2023; 24:e938396

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Table 1. Results of in silico predictive algorithms for variants in the present case. Multiple lines of computational analysis showed supportive data of deleterious effects on the gene or gene product.

Gene	Position (GRCh37)	Substitution	Amino acid change	Inherited	dbSNP	SIFT	PolyPhen-2	CADD	M-CAP
	Chr20; 33530352	430G>A	Glu144Lys	Mother	rs140328832	0 (deleterious)	0.998 (probably damaging)	32	0.312 (possibly pathogenic)
	chr20; 33523408	805G>A	Gly269Ser	Father		0 (deleterious)	0.991 (probably damaging)	32	0.237 (possibly pathogenic)
– ; CADD – Combined Annotation Dependent Depletion score is a tool for scoring the deleteriousness of single nucleotide variants in the human genome; M-CAP – Mendelian Clinically Applicable Pathogenicity score is the pathogenicity classifier for rare missense variants in the human genome.

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Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up

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