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. 2022 Aug 12;9(7):886–899. doi: 10.1002/mdc3.13516

TABLE 1.

Detailed clinical and laboratory characteristics and treatment outcomes of individual patients with SLC30A10 mutations

Subject no. Subject Sex Age (y) C Onset age (y) Dystonia Other features I H Hb (g/dL) LFT Mn (mcg/L) Variant identified Treatment outcomes
Children with SLC30A10 mutations
1 F118 F 8 + 5 + (LL only) Spasticity, brisk reflexes, recurrent falls 15.4 A 42.0

chr1:220101323G>A

c.460C>T; p.Gln154*

Initial improvement on Na2CaEDTA, but suboptimal. D‐penicillamine added leading to further improvement. LFT normalized on treatment. She had severe polycythemia despite chelation and required four sessions of plasma exchange.
2 F2‐C118 F 9 + 2 + (b/l feet) Central hypotonia, chorea + 15.6 A 23.9

chr1:220101291_220101291delG

c.492delC; p.Gly165Alafs*27

Marked neurological improvement noted. LFT normalized. Hepatomegaly regressed.
3 F2‐C2 F 2.5 + 2.0 + (bilateral feet) Choreiform and athetoid movements of hands and feet 17.5 A 29.2

chr1:220101291_220101291delG

c.492delC; p.Gly165Alafs*27

Some neurological improvement. LFT normalized.
4 F2‐C318 F 7 + 2 + (b/l toes) 11.4 N 29.5

chr1:220101291_220101291delG

c.492delC; p.Gly165Alafs*27

Some neurological improvement although could not ambulate independently. LFT normalized.
5 F2‐C4 F 2 + 1.5 + (b/l feet and hands) 15.6 N 34.0

chr1:220101291_220101291delG

c.492delC; p.Gly165Alafs*27

Patient showed initial improvement on Na2CaEDTA, but suboptimal. D‐penicillamine was added leading to further improvement from baseline. LFT normalized on treatment.
6 F2‐C5 F 2.5 + 1.5 + (b/l hands, feet) Spasticity, brisk reflexes, tongue dyskinesia 15 N 42.0

chr1:220101291_220101291delG

c.492delC; p.Gly165Alafs*27

Initial improvement on Na2CaEDTA, but suboptimal. D‐penicillamine was added leading to further improvement. LFT normalized on treatment.
7 F218 M 4 + 3 + (b/l LL) Central hypotonia 16.3 A 19.5

chr1:220101291_220101291delG

c.492delC; p.Gly165Alafs*27

Died in a road traffic accident.
8 F39 M 4.5 + 2 + (b/l feet) Parkinsonism + 10.2 to >15.7 A 186.0

chr1:220101764_220101765insA; c.19_20insT

(p.Lys7Ilefs*106

Initial improvement, then moderate worsening despite Na2CaEDTA. Became non‐ambulatory and developed progressive polycythemia.
9 F4 F 16 8 + (b/l feet) Spasticity, brisk reflexes + + 17.5 A 16.3 Chr1:220100449A>G; g.31541A>G; c.641‐2A > G [Splice site] Some neurological improvement noted. Hepatomegaly persistent.
10 F5 M 10.5 + 1.5 + (all limbs) Parkinsonism 17.0 N 10.0

chr1:220089243C>T;

c.1006C>T; p.His336Tyr

Lost to follow‐up.
11 F6 M 16 + 12 + Bradykinesis, hypomimia, facial dystonia + 16.6 A UrineMn++

chr1:220089150C>T;

c.1099C>T; p.Arg367*

Some improvement noted in gait, dystonia, cognitive functions.
12 F82 F 5.5 + 5.1 + (b/l feet) Parkinsonism + 21.4 A 130.0 chr1:220089203 T>C; c.1046 T>C;p.Leu349Pro Some neurological improvement noted. Only three cycles of chelation given at the time of enrolment.
13 F918 F 15 + 3 + Gen. Dysarthria, dysphagia + 19.0 A 9.8

chr1:220101230_220101288del58 c.496_553del58

p.Ala166Glnfs*7

She received trihexyphenidyl, levodopa/carbidopa and oral iron supplementation. Because of unavailability, chelation therapy could not be offered. She required blood‐letting twice.
Clinical exome sequencing negative
14 F7 F 2.5 + 1.4 + (b/l LL) Spasticity, brisk reflexes + 19.2 A Serum and urine Mn++ No exonic pathogenic variations identified; UTR not covered No improvement but no further deterioration noted. Partial exchange done for polycythemia.

Abbreviations: A, abnormal; AFO, ankle foot orthoses; ALT, alanine aminotransferase; AST, aspartate aminotransferase; b/l, bilateral; Br, bilirubin; C, consanguinity; F, female; Gen., generalized; H, hepatomegaly; I, incoordination; LFT, liver function test; LL, lower limb; M, male; Mn, manganese; N, normal; N/A, not available; S, sex; UL, upper limb.