3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (SCHAD, HADH)

Question 1

What is  3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (SCHAD, HADH)?

Accepted Answer

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]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperinsulinismus durch Mangel an kurzkettiger 3-Hydroxyacyl-CoA-Dehydrogenase

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 231530

Question 4

Which enzymes are involved?

Accepted Answer

Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial

Disease	3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (SCHAD, HADH)
Synonym	SHADH DEFICIENCY, SCHAD DEFICIENCY, FORMERLY
OMIM	231530 OMIM = Online Mendelian Inheritance of Men
Orphanet	71212
Protein (UniProt)	Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
ExPASy	1.1.1.35
Gene locus	4q25
ICD	E71.3
Summary	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]
Laboratory findings	3-Hydroxybutyric acid inc (urine) 3-Hydroxybutyrylcarnitine (C4-OH) inc (plasma) 3-Hydroxybutyrylcarnitine (C4-OH) inc (dried blood spot (DB) 3-Hydroxydodecanedioic acid inc (urine) 3-Hydroxyglutaric acid inc (urine) Adipic acid inc (urine) Ammonia normal/inc (blood) Creatine kinase inc (serum) D-Glucose normal/dec (blood) Dicarboxylic acids inc (urine) Myoglobin inc (urine) Sebacic acid inc (urine) Short-chain 3-hydroxyacyl-CoA dehydrogenase dec (muscle) Suberic acid inc (urine) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	brown colored urine cardiomyopathy cardiomyopathy, dilated cardiomyopathy, hypertrophic encephalopathy feeding difficulties, poor feeding hyperammonemia hyperinsulinism hypoglycemia hypoketotic hypoglycemia hypotonia ketosis, ketoacidosis lethargy, drowsiness, apathy liver failure liver involvement or dysfunction mental retardation microcephaly (<2 SD for age) muscle weakness onset, infancy onset, neonatal Organic acids, urine rhabdomyolysis seizures sudden death urine color, abnormal vomiting