2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (HSD10)

Q: What is 2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (HSD10)?

very rare (<1:1000000) X-linked dominant mutation in the HSD17B10 gene most patients are male, less severe phenotype in females Clinical symptoms as well as the impressive lactic acidosis found in some patients may mimic a mitochondrial disease [Perez-Cerda C et al. 2005]

Q: Gibt es eine deutsche Bezeichnung?

2-Methyl-3-Hydroxybutyrazidurie; HSD10-Krankheit; 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase-Mangel

Q: Which enzymes are involved?

3-hydroxyacyl-CoA dehydrogenase type-2

Question 1

What is  2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (HSD10)?

Accepted Answer

very rare (<1:1000000)
X-linked dominant
mutation in the HSD17B10 gene
most patients are male, less severe phenotype in females
Clinical symptoms as well as the impressive lactic acidosis found in some patients may mimic a mitochondrial disease [Perez-Cerda C et al. 2005]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

2-Methyl-3-Hydroxybutyrazidurie; HSD10-Krankheit; 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300438

Question 4

Which enzymes are involved?

Accepted Answer

3-hydroxyacyl-CoA dehydrogenase type-2

Disease	2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (HSD10)
Synonym	17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY; HSD10 MITOCHONDRIAL DISEASE; HSD10MD
OMIM	300438 OMIM = Online Mendelian Inheritance of Men
Orphanet	391417
Protein (UniProt)	3-hydroxyacyl-CoA dehydrogenase type-2
ExPASy	1.1.1.178, 1.1.1.35
Gene locus	Xp11.22
ICD	E72.8
Summary	very rare (<1:1000000) X-linked dominant mutation in the HSD17B10 gene most patients are male, less severe phenotype in females Clinical symptoms as well as the impressive lactic acidosis found in some patients may mimic a mitochondrial disease [Perez-Cerda C et al. 2005]
Laboratory findings	Tiglylglycine inc (urine) 2-Ethylhydracrylic acid inc (urine) 2-Methyl-3-hydroxybutyric acid inc (urine) Ketone bodies (urine) normal/inc (urine) L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (urine) L-Lactic acid inc (serum)
Symptoms	anemia basal ganglia, changes, lesions, calcifications (MRI, CT) behavior, hyperactive, restless cardiomyopathy cerebral atrophy chorea or athetosis dysarthria early death hearing defect, deafness hypotonia ketosis, ketoacidosis lactic acidosis mental retardation metabolic acidosis motor retardation MRI, brain, white matter abnormalities [-] nystagmus onset, childhood onset, infancy onset, neonatal optic atrophy periventricular white matter changes progressive neurologic defect retinopathy seizures sex: male > female speech development, delayed, abnormal tremor or twitching white matter changes, abnormalities