A Turkish patient with novel AHCY variants and presumed diagnosis of S-adenosylhomocysteine hydrolase deficiency
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.182, no.4, pp.740-745, 2020 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 182 Issue: 4
- Publication Date: 2020
- Doi Number: 10.1002/ajmg.a.61489
- Journal Name: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
- Page Numbers: pp.740-745
- Keywords: AHCY, metabolic disorders, S-adenosylhomocysteine hydrolase deficiency, WES
- Eskisehir Osmangazi University Affiliated: Yes
Abstract
S-adenosylhomocysteine hydrolase deficiency is an autosomal recessive neurometabolic disorder affecting the muscles, liver, and nervous system. The disease occurs by pathogenic variants of AHCY gene encoding S-adenosylhomocysteine hydrolase (AHCY) enzyme. This article reports a patient with presumed AHCY deficiency who was diagnosed by whole exome sequencing due to compound heterozygosity of novel p.T57I (c.170C>T) and p.V217M (c.649G>A) variants of AHCY gene. The patient had diffuse edema, coagulopathy, central nervous system abnormalities, and hypotonia. She died in 3 months due to cardiovascular collapse. Clinical findings of the present case were compatible with previously reported AHCY deficiency patients and the novel variants we found are considered to be the cause of the symptoms. This article also compiles the previous reports and expands clinical spectrum of AHCY deficiency by adding new features.