BabyScreen+ newborn screening

Gene: MTR

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940

Green List (high evidence)

Gene-disease association: strong. Homocystinuria and megaloblastic anemia is an autosomal recessive inborn error of metabolism resulting from defects in the cobalamin (vitamin B12)-dependent pathway that converts homocysteine to methionine, which is catalyzed by methionine synthase. Clinical features are somewhat variable, but include delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia, all of which respond to cobalamin supplementation.

Severity: severe

Age of onset: congenital

Non-molecular confirmatory testing: yes

Treatment: hydroxocobalamin, folic acid, betaine

Created: 4 Oct 2022, 4:54 a.m. | Last Modified: 4 Oct 2022, 4:54 a.m.

Panel Version: 0.274

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Homocystinuria-megaloblastic anemia, cblG complementation type

Publications

• PMID: 25526710