Nucleotide metabolism disorders
Gene: GUK1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 21, MIM# 621071
Guanylate kinase, encoded by GUK1, is a nucleotide monophosphate kinase. 4 adult cases from 3 unrelated families with biallelic variants leading to GUK1 deficiency. Cases presented with ptosis, ophthalmoparesis, myopathic proximal limb weakness, variable hepatopathy, and altered T-lymphocyte profiles. Initial manifestations in childhood or adolescence and developed ptosis and skeletal myopathy. mtDNA depletion/deletions are present in muscle biopsies of reduced activities of mitochondrial respiratory chain enzymes in all 4 cases.
Sources: LiteratureCreated: 7 Dec 2024, 1:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related
Publications
Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071
Gene: guk1 has been classified as Green List (High Evidence).
Gene: guk1 has been classified as Green List (High Evidence).
gene: GUK1 was added gene: GUK1 was added to Nucleotide metabolism disorders. Sources: Literature Mode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUK1 were set to 39230499 Phenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related Review for gene: GUK1 was set to GREEN