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Atypical HSD10 Disease



  • Czech (2011, pdf) Español (2011, pdf) Français (2011, pdf) Nederlands (2011, pdf) English (2011, pdf) Hrvatski (2011, pdf) Polski (2011, pdf) Português (2011, pdf) Italiano (2011, pdf) Deutsch (2011, pdf) The documents contained in this web site are presented[orpha.net]
  • Materials and methods Case presentation We report the case of a boy who had been well and achieved normal development until 6 years of age when he presented with severe ketoacidosis following a 5-day period of appetite loss and vomiting due to gastroenteritis[nature.com]
  • In the fibroblasts of the female who presented with the severe phenotype, only the mutant allele was identified in the cDNA sequence which was further confirmed by Relative Quantification (RQ) of HSD17B10 cDNA.[hal.archives-ouvertes.fr]
  • We report two cases of beta-ketothiolase deficiency presenting with acute ketoacidosis and "metabolic stroke.[pubfacts.com]
  • A more severe presentation in the neonatal period with little neurological development, severe progressive cardiomyopathy, and early death, is denoted neonatal form. Juvenile and atypical/asymptomatic forms of HSD10 disease have been recognized.[ncbi.nlm.nih.gov]
Feeding Difficulties
  • difficulty and microcephaly but his neurological status remained normal at up to age 5 years.[nature.com]
  • difficulties-developmental delay-microcephaly syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypotonia-spasticity-sleep[se-atlas.de]
  • […] syndrome Ramos-Arroyo syndrome Rare bone disease Rare circulatory system disease Rare developmental defect during embryogenesis Rare endocrine disease Rare genetic bone development disorder Rare genetic disease Rare gynecologic or obstetric disease Rare infertility[se-atlas.de]
Abdominal Pain
  • One month later, he developed an episode of abdominal pain and lethargy in which hypoglycemia (1.4 mmol l 1 ) and mild metabolic acidosis (blood pH 7.29, pCO 2 36.4 mm Hg, HCO 3 17.5 mmol l 1 and lactate 5.5 mmol l 1 ) were noted.[nature.com]
Abnormal Behavior
  • Homepage Rare diseases Search Search for a rare disease HSD10 disease, atypical type ORPHA:85295 Synonym(s): HSD10 deficiency, atypical type Syndromic X-linked intellectual disability type 10 X-linked intellectual disability-choreoathetosis-abnormal behavior[orpha.net]
  • F. : A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11. Am. J. Hum. Genet. 65: 1406-1412, 1999. PubMed ID : 10521307[humpath.com]
  • We first defined a new X-linked syndrome with a unique clinical picture characterized by mild mental retardation, choreoathetosis, and abnormal behavior.[uantwerpen.be]
  • The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior . Am. J. Hum. Genet. 80 , 372–377 (2007). 14.[nature.com]
  • This disorder is characterized by intellectual disability, uncontrollable movements of the limbs (choreoathetosis), and abnormal behavior.[ghr.nlm.nih.gov]
Aggressive Behavior
  • behavior syndrome X-linked intellectual disability-hypotonic face syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-precocious puberty-obesity[se-atlas.de]
  • Read More Beta-ketothiolase deficiency brought with lethargy: case report. Hum Exp Toxicol 2011 Oct 19;30(10):1724-7. Epub 2011 Jan 19. Mustafa Kemal University Medical Faculty, Pediatricians, Hatay, Turkey.[pubfacts.com]
  • One month later, he developed an episode of abdominal pain and lethargy in which hypoglycemia (1.4 mmol l 1 ) and mild metabolic acidosis (blood pH 7.29, pCO 2 36.4 mm Hg, HCO 3 17.5 mmol l 1 and lactate 5.5 mmol l 1 ) were noted.[nature.com]
  • […] accumulations of abnormally shaped mitochondria Rigidity Pain Parkinsonism Akinesia Amyotrophic lateral sclerosis Bulbar palsy Abnormality of mitochondrial metabolism Frontotemporal dementia Pseudobulbar signs Frontal lobe dementia Abnormality of the eye Lethargy[mendelian.co]
  • CARDIOMYOPATHY AND HEARING LOSS Is also known as maternally-inherited cardiomyopathy and deafness; trna-lys-related cardiomyopathy-hearing loss syndrome Related symptoms: Ataxia Sensorineural hearing impairment Muscle weakness Peripheral neuropathy Hyperreflexia[mendelian.co]
  • […] without Hypopigmentation, Familial Progressive; OMIM:145270 Hyperproglucagonemia OMIM:616214 Hyperproinsulinemia OMIM:615555 Hyperprolactinemia; HPRL OMIM:239500 Hyperprolinemia, Type I; HYRPRO1 OMIM:239510 Hyperprolinemia, Type II; HYRPRO2 OMIM:145290 Hyperreflexia[informatics.jax.org]
  • He also had some clumsiness with fine motor skills. His growth was normal. His height and weight were 111.5 cm ( 1.2 s.d.) and 22.2 kg (0 s.d.), respectively.[nature.com]


  • […] ketoacidotic episode at the age of 6 years is late compared with that in typical T2-deficient patients who develop such crises around the age of 6 months to 2 years. 7 , 8 The first patient described by Zschocke et al. 1 had metabolic decompensation with ketonuria[nature.com]


  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Summary of "A Chemical Genomics Approach to Drug Reprofiling in Oncology : Antipsychotic Drug Risperidone as a Potential Adenocarcinoma Treatment." Drug reprofiling is emerging as an effective paradigm for discovery of cancer treatments.[bioportfolio.com]
  • Typically, it peaks at around 2 months and rarely needs treatment, sometimes gels or ointments are given. Acne aestivalis List of cutaneous conditions Katsambas AD, Katoulis AC, acne neonatorum, a study of 22 cases. OConnor NR, McLaughlin MR, Ham P.[wikivisually.com]
  • Eur J Pediatr 155(Suppl 1):33–38 CrossRef Google Scholar Cherqui S (2012) Cysteamine therapy: a treatment for cystinosis, not a cure.[link.springer.com]
  • There is no effective treatment.[ncbi.nlm.nih.gov]


  • However, the clinical phenotype and prognosis of these two inherited metabolic disorders, namely HSD10 deficiency and β-KT deficiency, contrast sharply.[pnas.org]


  • Zitierlink: Zusammenfassung Submicroscopic copy-number imbalances contribute significantly to the genetic etiology of human disease.[pubman.mpdl.mpg.de]
  • The c.194T C mutation in HSD17B10 can be identified by the restriction fragment polymorphism analysis, thereby facilitating the screening of this novel mutation in individuals with intellectual disability of unknown etiology and their family members much[journals.plos.org]


  • Specifically, we summarize the functional biochemical data obtained in vitro with the use of recombinant EFhd2 protein, and integrated them with in vivo data in order to interpret the emerging role of EFhd2 in synaptic plasticity and in the pathophysiology[risweb.st-andrews.ac.uk]
  • McGraw-Hill, New York, S 1909–1963 Google Scholar Brusilow SW, Maestri NE (1996) Urea cycle disorders: diagnosis, pathophysiology, and therapy.[link.springer.com]
  • Disturbance in isoleucine catabolism may be attributed to such reversible metabolic decompensation in HSD10 disease, and appears to be independent from pathophysiology of neurodegeneration in HSD10 disease.[nature.com]


  • These neurosteroids interact with receptors that prevent the brain from being overloaded with too many signals. By regulating the activity of these neurosteroids, the HSD10 protein may help maintain normal brain function.[ghr.nlm.nih.gov]
  • Hum Mutat 31:380–390 CrossRef PubMed Google Scholar Strauss KA, Morton DH, Puffenberger EG et al (2007) Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.[link.springer.com]
  • MAA-induced increase of TBA-RS levels was fully prevented by free radical scavengers, indicating that free radicals were involved in this effect.[pubfacts.com]

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