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Summary
GALACTOSEMIA III (GALE-D)
GALE DEFICIENCY GALACTOSE EPIMERASE DEFICIENCY
230350
OMIM = Online Medalian Inheritance of Men
79238
1p36.11
rare
autosomal recessive
Milk-fed newborns with the mild form .. are well and have neither hyper-galactosemia, nor galactosuria, nor hyperaminoaciduria (Gitzelmann 1996). Severe forms of Galactosemia III has been reported by Holton et al. (1981) and Henderson et al. (1983).
symptoms
Amino acids, urine
aminoaciduria, generalized
failure to thrive
hearing defect, deafness
hepatomegaly (large liver)
hypotonia
jaundice
mental retardation
motor retardation
no clinical signs or symptoms
speech development, delayed, abnormal
splenomegaly (large spleen)
vomiting
laboratory finding
Uridine diphosphate galactose-4-epimerase decreased activityerythrocytes
Galactose-1-phosphate increasederythrocytes
D-Galactose increasedserum
D-Galactose0.000.00 increasedurineall
Literature
Goebel HHWisniewski KECurrent state of clinical and morphological features in human NCLBrain Pathol14161-692004
Casey JP,et al.Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARSJ Inherit Metab Dis3861085-10922015
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Staufner C,et al.Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic conceptsJ Inherit Metab Dis3913-162016
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Santavuori Pet al.Neuronal ceroid lipofuscinoses in childhoodSuppl Clin Neurophysiol530443-4512000
Ozbek MN,et al.Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literaturePediatr Diabetes114279-2852010