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Summary
GALACTOSEMIA IV (GALM)
137030
OMIM = Online Medalian Inheritance of Men
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2p22.1
very rare
symptoms
cataract
no consistent clinical signs or symptoms
onset, infancy
onset, neonatal
patent ductus venosus
laboratory finding
D-Galactose +€mol/lblood
Literature
Lebigot E,et al.Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patientsJ Inherit Metab Dis385881-8872015
Ramakrishna SH,et al.Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Alu element insertion in the FBP1 gene and delayed diagnosisJ Pediatr Endocrinol Metab002017