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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 2.

Clinical, Neuroimaging, and Metabolic Findings in FARS2 Deficiency

Infantile OnsetLater Onset
Number of families 196
Number of individuals 2611
Age at presentation Birth-6 mos (median 35 days; mean 62 days)6 mos-5 yrs (median 2 yrs; mean 2.1 yrs)
Outcome Alive8/23 (age range: 4 mos-3.5 yrs; median 1.6 yrs; mean 1.8 yrs)11/11 (age range: 5.5-41 yrs; median 17 yrs; mean 20 yrs) 1
Deceased15/23 (age range 2 days-15 yrs; median 4 mos; mean 20 mos)0/11
Neurologic manifestations DD/ID24/246/11
Truncal hypotonia16/192/9
Spasticity11/1910/10 (spastic paraplegia)
Seizures24/253/11
Neuroimaging MRI: brain atrophy15/192/11
MRI: thin corpus callosum12/190/11
MRI: hyperintensity of dentate nuclei4/191/11
MRS: ↑ lactate peak8/11NA
Liver Enlarged5/190/11
↑ transaminases14/190/11
↑ GGT 28/8NA
Growth Failure to thrive9/170/8
Microcephaly14/180/7
Metabolic Lactic acidosis21/223/10
↑ CSF lactate7/72/3
↑ plasma alanine13/174/6
ETC enzyme activity Low complex I activity3/71/2
Low complex IV activity4/71/2
Normal activity2/70/2

CSF = cerebrospinal fluid; DD = developmental delay; ETC = electron transport chain; GGT = gamma-glutamyl transferase; ID = intellectual disability; MRI = magnetic resonance imaging; MRS = magnetic resonance spectroscopy

1.

One individual who had hypoxic-ischemic encephalopathy was not included in age-of-onset calculations. For another individual (who had seizures with a normal EEG following vaccination at age 2 months), age of onset was considered to be 3 years (the age at which he was evaluated for developmental delay [Vernon et al 2015].

2.

Elevations up to 1,700 U/L were observed.

From: FARS2 Deficiency

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