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Summary
TRIFUNCTIONAL PROTEIN DEFICIENCY
HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT HADHA
600890
OMIM = Online Medalian Inheritance of Men
746
2p23.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
rare
autosomal recessive
mutation in the alpha subunit of the hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (HADHA)
mutation in the beta subunit of the hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (HADHB )
symptoms
birthweight low (small for gestational age)
cardiac arrhythmia, dysrhythmia
cardiac involvement
cardiomyopathy
coma
early death
failure to thrive
HELLP syndrome
hydrops fetalis
hyperammonemia
hypoglycemia
hypotonia
lactic acidosis
liver involvement (acute, chronic, hepatitis)
muscle weakness
myopathy
onset, newborn
Organic acids, urine
pain, muscle
peripheral neuropathy
respiratory distress
respiratory insufficiency
retinitis pigmentosa
rhabdomyolysis
steatorrhea
laboratory finding
3-Hydroxydicarboxylic acid0.000.00 increasedurineno data
3-Oxoacyl-CoA thiolase decreased activityfibroblasts
Glucose 3.305.50decreasedblood
Dicarboxylic acids0.000.00 increasedurineno data
Creatine kinase400.0033000.0040.00400.00U/lserumnewborn
Long-chain 3-hydroxyacyl-CoA dehydrogenase decreased activityfibroblasts
2-Enoyl-CoA hydratase decreased activityfibroblasts
3-Hydroxysuberic acid0.000.00 increasedurineno data
Transaminases0.000.00 normal-increasedplasmaall
Carnitine0.000.00 normal-decreasedplasmaall
Dicarboxylic acids0.000.00 normal-increasedurineall
Ammonia0.000.00 normal-increasedbloodinfancy 1-12m
Literature
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