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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ia
CDG1A PMM2-CDG JAEKEN SYNDROME
212065
OMIM = Online Medalian Inheritance of Men
79318
16p13.2
  • ketogenic diet
  • mannose
  • no specific treatment
  • pericardectomy
rare (>300 patients)
autosomal recessive
mutations in PMM2 two subtypes: a neurological form with psychomotor retardation, strabismus, cerebellar hypoplasia, and retinitis pigmentosa, and a multivisceral form with neurological and extraneurological manifestations including liver, cardiac, renal, or gastrointestinal involvement [de Lonlay P et al. 2001]
symptoms
ascites
ataxia
cardiomyopathy
cataract
cerebellar atrophy or hypoplasia
clinodactyly
Coagulopathy/Coagulation factors
dysmorphism
early death
enteropathy, protein-loosing
epilepsy
failure to thrive
feeding difficulties, poor feeding
growth retardation
heart involvement
hepatomegaly (large liver)
hydrops fetalis
hyperinsulinism
hypoglycemia
hyporeflexia
hypotonia
intracranial hemorrhage
inverted nipples
limb abnormalities, limb deformities
lipodystrophia
liver involvement or dysfunction
mental retardation
motor retardation
nephrosis
nephrotic syndrome, congenital
nystagmus
onset, childhood
onset, infancy
pericardial effusion
peripheral neuropathy
renal cysts
retinitis pigmentosa
retinopathy
seizures
skeletal changes, skeletal abnormalities
strabismus
strokelike episodes
trichorrhexis nodosa
laboratory finding
Phosphomannomutase 100.00decreased activityfibroblasts
Carbohydrate-deficient transferrins 12.0024.00increasedserum
Transaminases 10.0030.00increasedserum
Thyroxine binding globuline (TBG) 6.2022.0042.00normal/decreasedserum
Transferrin 130.00430.00normal/decreasedserum
Tetrasialotransferrin 50.0065.00decreasedserum
Asialotransferrin 1.00increasedserum
Disialotransferrin 8.00increasedserum
alpha1-Antitrypsine 100.00200.00decreasedserum
Antithrombin III (AT III) 100.00decreasedplasma
Cholesterol 1.804.50decreasedserum
Haptoglobin 250.001750.00decreasedserum
Glycine
MRI, brain, abnormalities -
IEF of serum transferrin, type 1 pattern abnormalserum
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