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Summary
FUMARASE DEFICIENCY
FUMARATE HYDRATASE - CYTOSOLIC -MITOCHONDRIAL ACIDURIA, FUMARIC
606812
OMIM = Online Medalian Inheritance of Men
24
1q43
  • no specific treatment
rare (<1:1000.000)
autosomal recessive
symptoms
athetosis
behavior, autism or autistic-like
cerebral atrophy
corpus callosum, agenesis/hypoplasia
dystonia
early death
encephalopathy
failure to thrive
feeding difficulties, poor feeding
hepatomegaly (large liver)
hydrocephalus
hyperammonemia
hypotonia
infantile spasms
irritability
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
liver involvement or dysfunction
mental retardation
metabolic acidosis
microcephaly (<2 SD for age)
neutropenia (decreased neutrophils)
onset, fetus
onset, infancy
onset, neonatal
opisthotonus
optic atrophy
polyhydramnion (maternal)
progressive neurologic defect
seizures
speech development, delayed, abnormal
splenomegaly (large spleen)
vomiting
laboratory finding
Fumaric acid3000.004000.000.201.70mmol/mol creatinineurineadult
Citric acid0.000.0059.00652.00increasedurinenewborn
2-Oxoglutaric acid150.00250.0050.00152.00mmol/mol creatinineurine
Fumaric acid4.008.000.004.00-Ámol/lplasma
L-Lactic acid1.004.000.901.80mmol/lblood
Ammonia150.00200.0025.0080.00-Ámol/lblood
pH7.007.407.357.45no unitblood
L-Lactic acid 3.5029.30normal/increasedcerebrospinal fluid
EEG abnormalities -
MRI, brain, abnormalities -
Succinic acid0.000.00 increasedurineno data
Bilirubin increasedplasma
Literature
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Hernandez Det al.Trimethylaminuria and a human FMO3 mutation databaseHum Mutat223209-2132003
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Wendel UBakkeren J, de Jong J, Bongaerts GGlutaric acid mediated by gut bacteriaJ Inherit Metab Dis180358-3591995
Cashman JRet al.Biochemical and clinical aspects of the human flavin-containing monooxygenase form 3 (FMO3) related to trimethylaminuriaCurr Drug Metab42151-1702003
Donohoue Pet al.Congenital adrenal hyperplasiaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202929-29661995
Fraser-Andrews EAet al.Fish odour syndrome with features of both primary and secondary trimethylaminuriaClin Exp Dermatol282203-2052003
Yamazaki Het al.Effects of the dietary supplements, activated charcoal and copper chlorophyllin, on urinary excretion of trimethylamine in Japanese trimethylaminuria patientsLife Sci74222739-27472003
DAmato Met al.Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) geneHum Mutat2104482003
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Shiihara Tet al.Communicating hydrocephalus in a patient with Gauchers disease type 3Pediatr Neurol223234-2362000
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Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994