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Summary
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (MMDS1)
605711
OMIM = Online Medalian Inheritance of Men
401869
2p13.3
very rare
autosomal recessive
mutation in the NFU1 gene
symptoms
early death
encephalopathy
failure to thrive
feeding difficulties, poor feeding
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
leukoencephalopathy
onset, infancy
onset, neonatal
psychomotor retardation
pulmonary hypertension
respiratory insufficiency
white matter changes, abnormalities
laboratory finding
L-Lactic acid mmol/lserum
MRI, brain, abnormalities -
2-Hydroxybutyric acid mmol/mol creatinineurine
Leucine +€mol/lplasma
L-Isoleucine mol/mol creatinineplasma
Glycine +€mol/lplasma
Valine +€mol/lplasma
Lactate/Pyruvate ratio serum
Literature
Gumus E,et al.Niemann-Pick disease type C in the newborn period: a single-center experienceEur J Pediatr176121669-16762017
Wada K,et al.A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapyClin Pediatr Endocrinol264251-2572017
Satrom K,Gourley GCholestasis in Preterm InfantsClin Perinatol432355-3732016
Verkade HJ,et al.Biliary atresia and other cholestatic childhood diseases: Advances and future challengesJ Hepatol653631-6422016
Backes JM,et al.Hypertriglyceridaemia unresponsive to multiple treatmentsBMJ Case Rep002015
Ueda Y,Aoyagi H, Tajima TA newborn with combined pituitary hormone deficiency developing shock and sludgeJ Pediatr Endocrinol Metab30121333-13362017
Dursun F,Gerenli N, K-¦rm-¦z-¦bekmez HCholestasis and hypercalcemia secondary to panhypopituitarism in a newbornTurk J Pediatr591100-1032017
Fischler B,Lamireau TCholestasis in the newborn and infantClin Res Hepatol Gastroenterol383263-2672014
Gumus E,et al.Niemann-Pick disease type C in the newborn period: a single-center experienceEur J Pediatr176121669-16762017
Arrobas-Velilla T,et al.Pseudo-hypertriglyceridaemia or hyperglycerolemia?Clin Investig Arterioscler253123-1262013
Montoya-Williams D,Mowitz MCholestasis and Hepatic Iron Deposition in an Infant With Complex Glycerol Kinase DeficiencyPediatrics1401e201614792017