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Summary
2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (HSD10)
17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY HSD10 MITOCHONDRIAL DISEASE HSD10MD
300438
OMIM = Online Medalian Inheritance of Men
391417
Xp11.22
  • high-carbohydrate diet
  • low-protein diet
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]
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
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
laboratory finding
Lactic acid mmol/lcerebrospinal fluid
2-Methyl-3-hydroxybutyric acid160.00170.00 mmol/mol creatinineurinechild
Tiglylglycine20.00200.00 mmol/mol creatinineurine
Lactic acid mmol/lserum
Lactic acid300.003000.00 mmol/mol creatinineurine
2-Ethylhydracrylic acid0.000.00 increasedurineno data
Ketone bodies +/++urine
MRI, brain, white matter abnormalities -
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