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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIk
CDG2K TMEM165-CDG
614727
OMIM = Online Medalian Inheritance of Men
314667
4q12
rare
autosomal recessive
symptoms
dysmorphism
epiphyseal dysplasia
failure to thrive
feeding difficulties, poor feeding
fever
growth retardation
hepatomegaly (large liver)
hypotonia
kyphoskoliosis
metaphyseal dysplasia
microcephaly
muscle weakness
onset, child
osteoporosis
psychomotor retardation
short stature
thrombopenia, thrombocytopenia
laboratory finding
MRI, brain, white matter abnormalities -
Creatine kinase increasedserum
Transaminases abnormalserum
IEF of serum transferrin, type 2 pattern abnormalserum
Literature
Zhao BHet al.Osteoarthritis? Ochronotic arthritis! A case study and review of the literatureKnee Surg Sports Traumatol Arthrosc177778-7812009
Chan SSet al.De novo mutation in POLG leads to haplotype insufficiency and Alpers syndromeMitochondrion002009
John SSet al.Acute anterior uveitis as the initial presentation of alkaptonuriaJ Postgrad Med55135-372009
Pareyson Det al.Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literatureBrain13102321-23312008
Baier Cet al.Ochronosis--a rare cause of secondary gonarthrosisZ Orthop Unfall1473366-3682009
Datta AKet al.Alkaptonuria diagnosed in a 4-month-old baby girl: a case reportCases J1313082008
Joshi CNet al.Ketogenic diet in Alpers-Huttenlocher syndromePediatr Neurol404314-3162009