Red cell disorders

Gene: TPI1

Green List (high evidence)

More than 10 unrelated families reported; bi-allelic (missense, nonsense, frameshift) variants; Common p.Glu104Asp variant in Northern European population

Triosephosphate isomerase deficiency (TPID) is an autosomal recessive multisystem disorder characterised by early childhood onset congenital hemolytic anaemia, and progressive neuromuscular dysfunction. Many patients die from respiratory failure in childhood. The neurological features are variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Other features include intracellular accumulation of dihydroxyacetone phosphate (DHAP), particularly in red blood cells and increased susceptibility to infections.

Created: 7 Sep 2021, 5:17 a.m. | Last Modified: 7 Sep 2021, 5:17 a.m.

Panel Version: 0.64

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemolytic anemia due to triosephosphate isomerase deficiency MIM# 615512; chronic hemolytic anaemia; neuromuscular dysfunction; intracellular accumulation of dihydroxyacetone phosphate (DHAP)

Publications

• 9338582
• 32873690
• 8503454