Table 2.

Hereditary Disorders of Interest in the Differential Diagnosis of SLC39A14 Deficiency

GeneDifferential DisorderMOIFeatures of Differential Disorder
Overlapping w/SLC39A14 deficiencyDistinguishing from SLC39A14 deficiency
Hereditary disorder of manganese homeostasis (See also acquired hypermanganesemia below the table.)
SLC30A10 Hypermanganesemia with dystonia 1 (HMNDYT1)ARDystonia-parkinsonism; hypermanganesemia; brain MRI features consistent w/manganese depositionPresents w/polycythemia, abnormal iron indices, & liver disease in addition to neurologic phenotype;on liver MRI, absence of Mn deposition in liver w/T1 hyperintensity
Early-onset NBIA disorders (See NBIA Overview.)
ATP13A2 Kufor-Rakeb syndromeARParkinsonism-dystonia; T2-weighted hypointensity of the globus pallidus on brain MRIUsually present w/additional clinical features (e.g., pigmentary retinopathy, optic atrophy, oculomotor abnormalities, axonal neuropathy, cognitive decline, seizures); on brain MRI, absence of T1-weighted hyperintensity of the globus pallidus due to Mn deposition
C19orf12 MPAN
COASY CoPAN
FA2H FAHN
PANK2 PKAN
PLA2G6 PLAN
WDR45 BPAN XL
Disorder of copper metabolism
ATP7B Wilson disease ARParkinsonism-dystoniaLiver disease, psychiatric symptoms, low serum ceruloplasmin & high non-ceruloplasmin-bound serum copper; no Mn deposition on brain MRI
Inherited forms of dystonia (See Dystonia Overview.)
KMT2B KMT2B-related dystonia ADEarly-onset generalized dystoniaNo features consistent w/Mn deposition on brain MRI; absence of hypermanganesemia
MECR MECR-related neurologic disorder AROptic atrophy; no features consistent w/Mn deposition on brain MRI
TOR1A DYT1 early-onset isolated dystonia ADNo features consistent w/Mn deposition on brain MRI; absence of hypermanganesemia
GCH1 GTPCH1-deficient DRD ADParkinsonism-dystoniaNo features consistent w/Mn deposition on brain MRI
SLC6A3 SLC6A3-related dopamine transporter deficiency syndrome AR
SPR Sepiapterin reductase deficiency AR
TH Tyrosine hydroxylase deficiency AR

AD = autosomal dominant; AR = autosomal recessive; BPAN = beta-propeller protein-associated neurodegeneration; CoPAN = COASY protein-associated neurodegeneration; DYT = dystonia; DRD = dopa-responsive dystonia; FAHN = fatty acid hydroxylase-associated neurodegeneration. Mn = manganese; MOI = mode of inheritance; MPAN = mitochondrial membrane protein-associated neurodegeneration; NBIA = neurodegeneration with brain iron accumulation; PKAN = pantothenate kinase-associated neurodegeneration; PLAN = PLA2G6-associated neurodegeneration; XL = X-linked

From: SLC39A14 Deficiency

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