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2-methyl-3-hydroxybutyric aciduria

MedGen UID:
336957
Concept ID:
C1845517
Disease or Syndrome
Synonyms: 17 beta-hydroxysteroid dehydrogenase type 10 deficiency; 17-beta-hydroxysteroid dehydrogenase X deficiency; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency; 2M3HBA; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency; 3H2MBD deficiency; HSD10 deficiency; HSD17B10 DEFICIENCY; Hydroxyacyl-CoA dehydrogenase II deficiency
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
X-linked recessive inheritance refers to genetic conditions associated with mutations in genes on the X chromosome. A male carrying such a mutation will be affected, because he carries only one X chromosome. A female carrying a mutation in one gene, with a normal gene on the other X chromosome, will be unaffected.
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
SNOMED CT: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (801000124108)
 
Gene (location): HSD17B10 (Xp11.22)
OMIM®: 300438
Orphanet: ORPHA391417

Definition

HSD10 deficiency is an X-linked dominant neurodegenerative disorder characterized by onset in late infancy or during childhood. The severity is highly variable, but some patients have slow loss of developmental skills, cardiomyopathy, retinal degeneration, and seizures; the features resemble a mitochondrial disorder. Unlike other organic acidurias, most patients do not develop severe metabolic crises in the neonatal period (summary by Rauschenberger et al., 2010). [from OMIM]

Additional description

From GHR
17ß-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency is a disorder that affects many parts of the body. This condition is typically more severe in males than in females. Males with HSD10 deficiency have normal early development but soon begin to lose skills they have acquired. This developmental regression typically occurs before age 5 and results in intellectual disability and loss of motor skills such as sitting, standing, and walking. Affected males frequently have weak muscle tone (hypotonia), recurrent seizures (epilepsy), and movement problems. Progressive vision and hearing loss is also common in males with HSD10 deficiency. Females with HSD10 deficiency may have developmental delay, learning problems, or intellectual disability, but they do not experience developmental regression. Some females may have additional features of this condition, such as epilepsy, movement problems, and hearing loss.  http://ghr.nlm.nih.gov/condition/17beta-hydroxysteroid-dehydrogenase-type-10-deficiency

Clinical features

Nystagmus
MedGen UID:
409575
Concept ID:
C1963184
Finding
Retinal degeneration
MedGen UID:
504488
Concept ID:
CN000512
Finding
A deterioration of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Choreoathetosis
MedGen UID:
66712
Concept ID:
C0234967
Finding
Developmental regression
MedGen UID:
324613
Concept ID:
C1836830
Disease or Syndrome
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Progressive neurologic deterioration
MedGen UID:
381506
Concept ID:
C1854838
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Restlessness
MedGen UID:
425008
Concept ID:
CN000668
Finding
Delayed speech and language development
MedGen UID:
504583
Concept ID:
CN000706
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
504774
Concept ID:
CN001157
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Lactic acidosis
MedGen UID:
344523
Concept ID:
C1855560
Finding
Metabolic acidosis
MedGen UID:
505015
Concept ID:
CN001756
Finding
Acid accumulation or depletion of base in the body due to buildup of metabolic acids.
Hypoglycemia
MedGen UID:
505016
Concept ID:
CN001757
Finding
A decreased concentration of glucose in the blood.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Sign or Symptom
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROG2-methyl-3-hydroxybutyric aciduria

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