Rhabdomyolysis and Metabolic Myopathy

Gene: PGK1

Green List (high evidence)

Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Established gene-disease association.

Created: 6 Mar 2021, 7:33 a.m. | Last Modified: 6 Mar 2021, 7:33 a.m.

Panel Version: 0.6630

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Phosphoglycerate kinase 1 deficiency, MIM# 300653

Publications

• 6933565
• 1547346
• 7577653
• 9512313

Green List (high evidence)

OMIM: Myopathy in approximately 45% of patients

PMID: 19157875 - 18 year old patient experiencing muscle cramps and myalgia from 7 years old. Symptoms were aggravated by exercise, and he has elevated CK levels. Review table 2 shows variants associated with myopathy cluster within the C-terminal of the protein, 1/2 had childhood onset.

PMID: 30570712 - 1 family (2 siblings) with childhood onset metabolic myopathy with muscle pain and exercise intolerance. Patient had elevated CK levels, and a deletion spanning part of the 3' UTR region of this gene, but also 5 additional genes with no disease assocation.

PMID: 28801086 - 18 year old patient with difficulty walking at 10 years old, generalized dystonia and progressive leukodystrophy. Muscle weakness was not obvious and he had normal CK levels.

PMID: 26883264 - 1 family (2 siblings) with exercise intolerance, generalized weakness and muscle pain following exercise with onset in childhood.
Sources: Expert list

Created: 22 Jun 2020, 12:31 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Phosphoglycerate kinase 1 deficiency 300653

Publications

• PMID: 19157875
• 30570712
• 28801086
• 26883264