Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Nov 29;63(1):25-28.
doi: 10.1002/jmd2.12263. eCollection 2022 Jan.

Two siblings with galactose mutarotase deficiency: Clinical differences

Havva Yazici  1 , Ebru Canda  1 , Yasemin Atik Altınok  1 , Sema Kalkan Ucar  1 , Mahmut Coker  1
Affiliations
Case Reports

Two siblings with galactose mutarotase deficiency: Clinical differences

Havva Yazici et al. JIMD Rep. .

Abstract

Galactose mutarotase (GALM) deficiency is an inherited metabolic disease caused by the deficiency of the first enzyme in the Leloir pathway. GALM deficiency was first reported in 2018. To date, eight cases have been reported. We are presenting two siblings with GALM deficiency; one patient presented with cataracts and her brother was asymptomatic. We evaluated the first case due to a cataract at 3 months old. She had elevated galactose and galactose-1-phosphate and normal galactose-1-phosphate uridylyltransferase (GALT) activity. Genetic analysis and other laboratory and clinical findings excluded galactokinase-1 (GALK1) and UDP-galactose 4'-epimerase (GALE) deficiencies. She had a homozygous mutation p. Gly277Arg (c.829G>A) in the GALM (NM_138801) gene. She was 3 years old at the last visit, and her physical examination was normal, except for cataracts. The same mutation was found to be homozygous in the patient's asymptomatic sibling during family screening. He had normal blood galactose and galactose-1-phosphate. This study highlights the importance of evaluating the whole galactose metabolism in terms of GALM deficiency in patients with cataracts.

Keywords: GALM; Leloir pathway; cataract; galactose; galactose mutarotase.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

FIGURE 1
FIGURE 1
Pedigree of the patient family. formula imageSpontaneous abortus. The arrow indicates the index case (Patient 1)
See this image and copyright information in PMC

References

    1. Wada Y, Kikuchi A, Arai‐Ichinoi N, et al. Biallelic GALM pathogenic variants cause a novel type of galactosemia. Genet Med. 2019;21:1286‐1294. - PubMed
    1. Haskovic M, Coelho AI, Bierau J, et al. Pathophysiology and targets for treatment in hereditary galactosemia: a systematic review of animal and cellular models. J Inherit Metab Dis. 2020;43:392‐408. - PMC - PubMed
    1. Iwasawa S, Kikuchi A, Wada Y, et al. The prevalence of GALM mutations that cause galactosemia: a database of functionally evaluated variants. Mol Genet Metab. 2019;126:362‐367. - PubMed
    1. Timson DJ. Type IV galactosemia. Genet Med. 2019;21(6):1283‐1285. - PubMed
    1. Rubio‐Gozalbo ME, Derks B, Das AM, et al. Galactokinase deficiency: lessons from the GalNet registry. Genet Med. 2021;23(1):202‐210. - PMC - PubMed

Publication types