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Summary
HYPERLEUCINE-ISOLEUCINEMIA
238340
OMIM = Online Medalian Inheritance of Men
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very rare
autosomal recessive
symptoms
alopecia
failure to thrive
feeding difficulties, poor feeding
hair loss
hearing defect, deafness
ketosis, ketoacidosis
mental retardation
metabolic acidosis
nystagmus
onset, infancy
psychomotor retardation
retinal or macular degeneration
seizures
vomiting
laboratory finding
Arginine normal-increasedplasma
Glycine normal-increasedplasma
L-Isoleucine increasedplasma
L-Leucine increasedplasma
L-Valine increasedplasma
Literature
Losfeld ME,et al.A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complexHum Mol Genet2361602-16052014
Ng BG,et al.Expanding the Molecular and Clinical Phenotype of SSR4-CDGHum Mutat36111048-10512015