Table 1 Clinical summary of the patients with FAD transporter deficiency reported to date.
From: Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency
Patient | Age When reported (years) | Sex | Ethnicity | Consan-guinity | Phenotype | Acylcarnitine Profile Abnormalities before Riboflavin Supplementation (DBS) | Urine Organic acid abnormalities in umol/mmol creatinine | Response to Riboflavin | Causative Variant/s in SLC25A32 | Zygosity |
|---|---|---|---|---|---|---|---|---|---|---|
1 | 25 | Male | Omani | Yes | hypo-ketotic hypoglycemia | High C6, C8, and C10 | Ethylmalonic acid :22 (<20) 2- OH glutaric acid:274 (<20) | clinical and biochemical improvement | c.272 G > T (p.Gly91Val) | homozygous |
2 | 4 | Female | Omani | No | hypo-ketotic Hypoglycemia & mild hepatomegaly | High C4, C5, C6, C8, and C10 | Ethylmalonic acid :1011(<33) 2- OH glutaric acid :335(<65) | clinical and biochemical improvement | c.272 G > T (p.Gly91Val) | homozygous |
3 | 1.5 | Male | Omani | No | Hypo-ketotic Hypoglycemia | High C4, C6, C8, and C10 | Ethylmalonic acid :44(<47) 2- OH glutaric acid:95 (<80) | clinical and biochemical improvement | c.272 G > T (p.Gly91Val) | homozygous |
44 | 14 | Female | French | No data | recurrent exercise intolerance | features of multiple acyl–coenzyme A dehydrogenase deficiency (not specified) |  | clinical and biochemical improvement | Two heterozygous mutations, c.425 G > A (p.Trp142*) and c.440 G > A (p.Arg147His) | compound heterozygous |
55 | 51 | Male | Dutch | Yes | early-onset ataxia, myoclonia, dysarthria, muscle weakness, and exercise intolerance | High C4, C5, C6, C8.C10 | Â | clinical improvement | c.264_31delinsCTCACAAATGCTCA | homozygous |
