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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
ALPERS-HUTTENLOCHER SYNDROME
203700
OMIM = Online Medalian Inheritance of Men
726
15q26.1
  • ketogenic diet
  • no specific treatment
rare
autosomal recessive
severe developmental delay, intractable seizures and liver involvement in a previously healthy child (Gauthier-Villars M et al. 2001)
symptoms
areflexia
ataxia
blindness, visual loss, visual impairment
chorea or athetosis
cirrhosis or fibrosis of liver
developmental delay
early death
encephalopathy
epilepsy
fetal akinesia/hypokinesia sequence
hearing defect, deafness
hypotonia
liver failure
liver involvement or dysfunction
mental retardation
microcephaly (<2 SD for age)
motor retardation
myoclonus
neurological deterioration
nystagmus
onset, adulthood
onset, childhood
onset, neonatal
optic atrophy
psychomotor retardation
seizures
spastic diplegia/quadriplegia
laboratory finding
Transaminases 10.0030.00increasedserum
Protein, total, spinal fluid 10.0030.00increasedcerebrospinal fluid
Complex I activity
MRS, brain, abnormalities -
MRI, brain, abnormalities -
VER, abnormal -
EEG abnormalities -
3-Methylglutaconic acid0.000.00 increasedurineinfancy
L-Lactic acid0.000.00 increasedplasmainfancy
Ethylmalonic acid0.000.00 normal-increasedurineinfancy
Literature
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Orho Met al.Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0J Clin Invest1020507-5151998
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Chinen Yet al.Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in JapanJ Hum Genet002005
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991