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Summary
ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (AMACRD)
AMACR DEFICIENCY
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
developmental delay
diarrhea
dysarthria
encephalopathy
epilepsy
gallstones, cholelithiasis
headache (severe, recurrent or occipital, migraine)
impaired visual acuity
intellectual disability/intellectual developmental disorder (ID/ IDD)
liver involvement or dysfunction
motor retardation
neuropathy
onset, adulthood
onset, childhood
paraparesis/paraplegia
retinitis pigmentosa
retinopathy
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