BabyScreen+ newborn screening

Gene: TTPA

Green List (high evidence)

Strong gene disease association
Progressive neurologic disorder due to failure to absorb vitamin E
Childhood onset of symptoms but usually 4-5 years is earliest.
Non genetic evaluation: Friedreich ataxia-like neurologic phenotype combined with markedly reduced plasma vitamin E (α-tocopherol) concentration and a normal lipoprotein profile in the absence of known causes of malabsorption
Treatment: Lifelong high-dose oral vitamin E supplementation to bring plasma vitamin E concentrations into the high-normal range; treatment early in the disease process may to some extent reverse ataxia and mental deterioration.

Although youngest onset is around 5years, could provide effective treatment prior to this so suggest green.

Created: 7 Nov 2022, 6:13 a.m. | Last Modified: 7 Nov 2022, 6:13 a.m.

Panel Version: 0.802

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia with isolated vitamin E deficiency MIM#277460

Publications

• PMID: 20301419, PMID: 25614784, PMID: 20464573, PMID: 16491382