<unk>  domain structures. Three identified mutations are represented. Arrows indicate positions of mutations.<unk>  is caused by a hypomorphic mutation in gene<unk>  ( OMIM#172100).<unk>  is a 29 kb gene with 14 exons, mapping to chromosome 6q14.1-q14.2 and encoding a 542 amino acid protein that serves as the crucial catalyst for the glycosylation pathway Protein<unk>  is required for the reversible conversion of GlcNAc-6-phosphate (GlnNAc-6-P) to GlnNAc-a-phosphate (GlcNac-1-P), a precursor step for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc). Impaired function of<unk>  is demonstrated by decreased enzyme activity, reduced UDP-GlcNAc and reduced N-linked glycosylation and O-linked glycosylation<unk>  is composed of four protein domains: active serine domain, metal-binding domain, sugar-binding domain, and phosphate-binding domain. Missense and deletion mutations have been discovered within multiple of these domains. All identified mutant<unk>  retain catalytic specificity however weaken enzymatic activity. Mutations in the sugar-binding domain leads to reduced<unk>  abundance and impairs<unk>  function and glycosylation to a higher extent than mutations in the catalytic or phosphate-binding domain, and results in a more severe clinical phenotype. Inheritance In this example, two unaffected parents each carry one copy of a gene mutation for an autosomal recessive disorder. They have one affected child and three unaffected children, two of which carry one copy of the gene mutation.<unk>  is inherited in an autosomal recessive manner. Autosomal refers to the fact that every person has two<unk>  alleles, one inherited from each parent. Recessive refers to each affected person needs two copies of the abnormal gene—one copy from each parent—to develop the syndrome. Typically, both parents of an affected child carry one abnormal gene and are unaffected by the disease. When both parents have one abnormal copy of the<unk>  gene, each child has a 25 percent chance of being affected by the disease. Sometimes the two copies of the<unk>  gene that a child inherits have identical, or homozygous, mutations. This is common if the child’s parents are related to each other, explaining why many reported cases of<unk>  have involved consanguinity families. Many patients have different mutations on the two copies of<unk> , and their mutations are called compound heterozygous mutations. In either case, the patient is not able to produce functional<unk>  protein
PGM3 deficiency
PMM2 deficiency
LRBA deficiency
NGLY1 deficiency
Factor I deficiency
CDKL5 deficiency disorder
Enolase deficiency
Factor X deficiency