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Disease	FUMARIC ACIDURIA
Synonym	FUMARATE HYDRATASE; - CYTOSOLIC; -MITOCHONDRIAL; ACIDURIA, FUMARIC
OMIM	136850 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Enzyme	fumarase Detailed enzyme information on www.expacy.ch
Gene locus	1q42.1 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Fumarate hydratase
genetests.org	search search on genetest.org by MIM 136850 search search on genetest.org by ://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/disease/FUMARIC%20ACIDURIA?db=genetests Testing - View a listing of laboratories that provide clinical testing for this disorder Reviews - Read the GeneReview for this disorder Resources - View and print relevant consumer health-oriented resources.
Summary	rare (<40 cases) autosomal recessive
Clinical symptoms	cerebral atrophy corpus callosum, agenesis/hypoplasia early death failure to thrive hydrocephalus hyperammonemia hypotonia infantile spasms irritability lactic acidosis large liver lethargy, drowsiness, malaise or sleep disorder liver involvement (acute, chronic, hepatitis) mental retardation metabolic acidosis microcephaly onset, fetus onset, infant onset, newborn polyhydramnion (maternal) progressive neurologic defect seizures speech development, delayed, abnormal vomiting
Abnormal Findings in blood	Ammonia Normal: 25.00-80.00 µmol/l \| Significant : 150.00-200.00 µmol/l Lactate, blood Normal: 0.90-1.80 mmol/l \| Significant : 1.00-4.00 mmol/l pH Normal: 7.35-7.45 no unit \| Significant : 7.00-7.40 no unit
Abnormal Findings in plasma	Fumaric acid Normal: 0.00-4.00 µmol/l \| Significant : 4.00-8.00 µmol/l
Abnormal Findings in spinal fluid	Lactate, spinal fluid Normal: 0.00-25.00 mmol/mol creatinine \| Significant : - normal/increased
Abnormal Findings in urine	2-Oxoglutaric acid Normal: 50.00-152.00 mmol/mol creatinine \| Significant : 150.00-250.00 mmol/mol creatinine Citrate Normal: 58.70-651.70 mmol/mol creatinine \| Significant : - increased Fumaric acid Normal: 0.00-2.00 mmol/mol creatinine \| Significant : 3000.00-4000.00 mmol/mol creatinine
Treatment	no specific treatment
Literature	There are 9 publications available. Click here to open the relevant FUMARIC ACIDURIA publications