| FUMARASE DEFICIENCY | |
| FUMARATE HYDRATASE; - CYTOSOLIC; -MITOCHONDRIAL; ACIDURIA, FUMARIC | |
|
606812
OMIM = Online Mendelian Inheritance of Men | |
|
24 | |
| Fumarate hydratase, mitochondrial | |
| 4.2.1.2 | |
| rare (<1:1000.000) autosomal recessive mutation in the fumarate hydratase gene | |
| Laboratory findings | Sedoheptulose-7-phosphate inc (urine) 2-Oxoglutaric acid normal/inc (urine) Ammonia inc (blood) Bilirubin inc (plasma) Citric acid inc (urine) Fumaric acid inc (urine) Fumaric acid normal/inc (plasma) L-Lactic acid normal/inc (blood) L-Lactic acid normal/inc (cerebrospinal fluid) pH normal/dec (blood) Succinic acid inc (urine) Transaminases (ASAT/ALAT) normal/inc (serum) |
| Symptoms | feeding difficulties, poor feeding hyperammonemia metabolic acidosis altered consciousness, consciousness disturbance athetosis cerebral atrophy corpus callosum, agenesis/hypoplasia dystonia early death EEG abnormalities [-] encephalopathy episodic course (clinical symptoms) failure to thrive hepatomegaly (large liver) hydrocephalus hypotonia infantile spasms irritability lactic acidosis lethargy, drowsiness, apathy liver involvement or dysfunction mental retardation microcephaly (<2 SD for age) MRI, brain, abnormalities [-] neutropenia (decreased neutrophils) onset, childhood onset, infancy onset, neonatal opisthotonus optic atrophy polyhydramnion (maternal) progressive neurologic defect seizures speech development, delayed, abnormal splenomegaly (large spleen) vomiting |