This inborn error of manganese metabolism has only recently been identified. A total of 28 affected individuals from ten families are known worldwide. Mutations in SLC39A14, encoding a Mn uptake transporter, have recently been recognized to cause excessive Mn concentrations in the blood which is believed to be neurotoxic and lead to a parkinsonian-like movement disorder caused by accumulation of Mn in the basal ganglia. We are reporting a new variant of SLC39A14 gene mutation (OMIM 608736 8p21.3) that has never been described in the literature so far. The index case is a 3-year-old female who was born at 30 weeks’ gestation by emergency lower segment caesarean section, the second of twins, weighing 1.4 kg. Parents have a consanguineous marriage (first cousins) and have four healthy male children. She presented at 30 months of age with history of unsteady gait of 4 months duration and is progressively worsening. She became stiff and has lost all of her locomotor skills. Apart from low serum iron and iron deficiency anemia, her initial work up was unremarkable. T1-weighted MRI brain showed bilateral hyperintense signal in basal ganglia, mid-brain and pontine tegmentum giving rise to the characteristic eye-of-the-tiger sign. Genetic DNA evaluation (Whole Exome Sequencing WES) identified the homozygous missense variant c.1136.T in exon 7 of SLC39A14 gene which is associated with hypermanganesemia. Whole blood Mn was markedly raised at 150 nmol/L (8 mg/L) (normal 10 nmol/L, 0.7 mg/Bioscientia). This young girl has just started treatment with intravenous disodium calcium edetate and oral iron.
SLC39A14 Tripoli Libya Dystonia Hypermanganesemia Eye of tiger
The solute carrier
Hypermanganesemia with dystonia type 2
Pantothenate kinase-associated neurodegeneration
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AZ: Prof. Zeglam conceptualized and designed the study, drafted the initial manuscript, and approved the final manuscript as submitted. AA: Dr. Abugrara read, wrote and commented on the brain MRI finding. Approved the final manuscript as submitted. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.
The authors have no financial relationships relevant to this article to disclose.
Compliance with ethical standards
Conflict of interest
We have no conflicts of interest to disclose.
All procedures performed were in accordance with the ethical standards of the hospital.
Informed consent was obtained from all individual participants included in this case report.
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