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Summary
ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY
AMACR
614307
OMIM = Online Medalian Inheritance of Men
79095
5p13.2
  • diet
  • symptomatic therapy
very rare
autosomal recessive
mutation in the AMACR gene 
Inborn errors of bile acid metabolism may present as neonatal cholestasis and fat-soluble vitamin malabsorption or as late onset chronic liver disease [Setchell et al. 2003]
symptoms
ataxia
blindness, visual loss, visual impairment
cholestasis
diarrhea
dysarthria
encephalopathy
epilepsy
gallstones, cholelithiasis
headache (severe, recurrent or occipital, migraine)
impaired visual acuity
liver involvement (acute, chronic, hepatitis)
motor retardation
neuropathy
onset, adult
onset, child
paraparesis/paraplegia
retinitis pigmentosa
seizures
tremor or twitching
laboratory finding
Transaminases increasedplasma
Phosphatase, alkaline increasedplasma
Phytanic acid0.000.00 normal-increasedplasma
Pristanic acid increasedplasma
Trihydroxycholestanoic acid increasedplasma
Dihydroxycholestanoic acid increasedplasma
MRI, brain, white matter abnormalities -
Literature
Ferlin Tet al.Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndromeJ Pediatr1310447-4491997
Malojcic Bet al.An adult case of Leigh diseaseClin Neurol Neurosurg1063237-2402004
Zammarchi Eet al.Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcomeJ Pediatr1310440-4431997
Deutsch SIet al.Hypothesized deficiency of guanine-based purines may contribute to abnormalities of neurodevelopment, neuromodulation, and neurotransmission in Lesch-Nyhan syndromeClin Neuropharmacol28128-372005
Clayton PTet al.Disorders of cholesterol biosynthesisArch Dis Child780185-1891998
Nowaczyk MJet al.Immunoablation does not delay the neurologic progression of X-linked adrenoleukodystrophyJ Pediatr1310453-4551997
Kuroda Yet al.Concomitant administration of sodium dichloroacetate and vitamin B1 for lactic acidemia in children with MELAS syndromeJ Pediatr1310450-4521997
Nyhan WLLesch-Nyhan DiseaseJ Hist Neurosci1411-102005
Reed JJRupp TEmergency department presentation of biotinidase deficiency: fulminant sepsis in a 4-year-old Hispanic malePediatr Emerg Care20137-392004
Wolf Bet al.Markedly elevated serum biotinidase activity may indicate glycogen storage disease type IaJ Inherit Metab Dis268805-8092003
Sluysmans Tet al.Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: evolution after prenatal diagnosis and prompt managementJ Pediatr1310444-4461997