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Summary
3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (SCHAD)
HADH DEFICIENCY, SCHAD DEFICIENCY, FORMERLY
231530
OMIM = Online Medalian Inheritance of Men
71212
4q25
  • diazoxide
rare (~10 cases)
autosomal recessive
mutation in the HADH gene

short-chain L-3-hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterised by hypoglycemia with hyperinsulinism (HH) in the neonatal or infancy periods [Camtosum E et al. 2015]

mutations in ABCC8 and KCNJ11 are the most common causes of HH, mutations in HADH is a rare cause of HH [Satapathy AK et al. 2015]
symptoms
brown colored urine
cardiomyopathy
cardiomyopathy, dilated
cardiomyopathy, hypertrophic
encephalopathy
feeding difficulties, poor feeding
hyperammonemia
hyperinsulinism
hypoglycemia
hypoketotic hypoglycemia
hypotonia
ketosis, ketoacidosis
lethargy, drowsiness, malaise or sleep disorder
liver failure
liver involvement or dysfunction
mental retardation
microcephaly (<2 SD for age)
muscle weakness
onset, infancy
onset, neonatal
Organic acids, urine
seizures
sudden death
vomiting
laboratory finding
Short-chain 3-hydroxyacyl-CoA dehydrogenase 2.485.108.70-Ámol/min/g tissuemuscle
Adipic acid15.00300.00 mmol/mol creatinineurine
Suberic acid6.00200.001.006.00mmol/mol creatinineurine
Sebacic acid30.00300.000.002.00mmol/mol creatinineurine
3-Hydroxybutyric acid200.001000.000.003.00mmol/mol creatinineurine
3-Hydroxydodecanedioic acid 10.00100.00increasedurine
D-Glucose1.005.003.305.50mmol/lblood
Myoglobin0.000.00 increasedurineno data
Dicarboxylic acids0.000.00 increasedurineno data
Transaminases increasedserum
Creatine kinase increasedserum
3-Hydroxybutyrylcarnitine (C4-OH) increasedplasma, DB
3-Hydroxyglutaric acid20.00200.00 mmol/mol creatinineurine
Ammonia +€mol/lblood
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