OMIM = Online Medalian Inheritance of Men
  • bone marrow transplantation
  • hemopoietic stem cell transplantation
  • morphine
  • no specific treatment
  • supportive/symptomatic therapy
rare (1:100.000)
autosomal recessive
mutation in the galactosylceramidase gene
high frequency in Israel, 1:50000 in Sweden
blindness, visual loss, visual impairment
cerebral atrophy
defect of deep tendon reflexes
early death
failure to thrive
feeding difficulties, poor feeding
hearing defect, deafness
hypertonia, spasticity
mental retardation
motor retardation
onset, infancy
optic atrophy
peripheral neuropathy
progressive neurologic defect
respiratory insufficiency
laboratory finding
Galactosylceramidase 100.00decreased activityfibroblasts
Galactosylceramidase 100.00decreased activityleucocytes
Protein, total, spinal fluid 10.0030.00increasedcerebrospinal fluid
SEP (sensory evoked potentials), abnormal -
CT, brain, abnormalities -
MRI, brain, white matter abnormalities -
EMG abnormalities -
VEP (visual evoked potentials), abnormal -
AEP (auditory evoked potentials), abnormal -
van Noort Get al.A congenital variant of glycogenosis type IVPediatr Pathol135685-6981993
Leuthner SRDas USLow Apgar scores and the definition of birth asphyxiaPediatr Clin North Am513737-7452004
Malvagia S,et al.Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemiasClin Chim Acta4500342-3482015
Diekman EF,et al.Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiencyJIMD Rep701-62013
Glaser Bet al.Familial hyperinsulinism maps to chromosome 11p14-15.1 30cM centromeric to the insulin geneNature Genetics70185-1881994
Fukao Tet al.Evidence for a structural mutation (ala347-to-thr) in a german family with 3-ketothiolase deficiencyBiochem Biophys Res Commun1790124-1291991
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Miki Yet al.Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndromeJ Pediatr136069-722000
Yamagucchi Set al.Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiencyPediatr Res340111-1131993
Hutchesson ACHall SK, Preece MA, Green AScreening for tyrosinaemia type IArch Dis Child Fetal Neonatal Ed.740F191-F1941996
Stanley CAet al.Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase geneN Engl J Med33801352-13571998
Anderson S,Brooks SSWhen the usual symptoms become an unusual diagnosis: a case report of trifunctional protein complexNeonatal Netw324262-2732013
Ter Horst HJet al.Prognostic Significance of Amplitude-Integrated EEG during the First 72 Hours after Birth in Severely Asphyxiated NeonatesPediatr Res5561026-10332004
Martin JM,Gillingham MB, Harding COUse of propofol for short duration procedures in children with long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficienciesMol Genet Metab1122139-1422014
Milner RDNesidioblastosis unravelledArch Dis Child745369-3721996
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Tint GSet al.Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndromeJ Pediatr127082-871995
Fukao Tet al.Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-CoA thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiencyJ Clin Invest8602086-20921990
Martinez Alvarez,et al.Optic neuropathy in methylmalonic acidemia and propionic acidemiaBr J Ophthalmol100198-1042016
Arrizza C,et al.Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-upTranspl Int28121447-14502015
Weinzimer SAet al.A syndrome of congenital hyperinsulinism and hyperammonemiaJ Pediatr1300661-6641997
Wheelan DTScriver CRHyperdibasic aminoaciduria: an inherited disorder of aminoacid transportPediat Res20525-5341968