Visit Metagene.de!
Summary
2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY
300438
OMIM = Online Medalian Inheritance of Men
35123
Xp11.22
  • high-carbohydrate diet
  • low-protein diet
very rare (<30 cases)
X-linked dominant
mutation in the HSD17B10 gene
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
behavior, hyperactive, restless
cardiomyopathy
cerebral atrophy
chorea or athetosis
dysarthria
early death
hearing defect, deafness
hypotonia
ketosis
lactic acidosis
mental retardation
metabolic acidosis
motor retardation
nystagmus
onset, child
onset, infant
onset, newborn
optic atrophy
progressive neurologic defect
seizures
speech development, delayed, abnormal
tremor or twitching
laboratory finding
Lactate increasedspinal fluid
2-Methyl-3-hydroxybutyric acid160.00170.00 mmol/mol creatinineurinechild
Tiglylglycine0.000.00 increasedurineno data
Lactate increasedblood
Lactate0.000.00 increasedurineno data
2-Ethylhydracrilic acid0.000.00 increasedurineno data
Literature
Sidbury JBGlycogenosis, type VIIIBDIS00802-8031990
Baynes Ket al.Pyridoxine-dependent seizures and cognition in adulthoodDev Med Child Neurol4511782-7852003
Castro Met al.Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patientsNeuropediatrics334186-1892002
Caliskan Met al.Thalamic hyperdensity -- is it a diagnostic marker for Sandhoff disease ?Brain Dev155387-3881993
Tanabe MSakura NHyperhistidinemia in patients with histidinemia due to increased decarboxylation of histidineClin Chim Acta1860111989
Imamura Iet al.Histamine metabolism in patients with histidinemia: determination of urinary levels of histamine, N-methylhistamine, imidazole acetic acid and its conjugate(s)J Biochem9601925-1984
Barshop BAet al.Kearns-Sayre syndrome presenting as 2-oxoadipic aciduriaMol Genet Metab69064-682000
Treacy Eet al.Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbateJ Pediatr1290445-4481996
Myers LAet al.Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantationJ Pediatr1455710-7122004
Zoubek Aet al.Acute intravascular hemolysis and fulminant liver failure as first manifestation of Wilsons disease: successful treatment of three childrenMonatschr Kinderheilk1440409-4121996
Stoeckler Set al.Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine in metabolism in manAm J Hum Genet580914-9221996
Gospe SMPyridoxine-dependent seizures: findings from recent studies pose new questionsPediatr Neurol263181-1852002
Dror Yet al.Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphologyPediatr Res553472-4772004
Mayatepek ELehmann WDGest+Ârter Abbau von 12- und 15-Hydroxyeikosatetraens+ñure (HETE) bei Patienten mit peroxisomaler Stoffwechselerkrankung10. Jahrestagung der APS in Fulda8.-10.2.96001996
Akli Set al.Collaborative study of the molecular epidemiology of Tay-Sachs disease in EuropeEur J Hum Genet13229-2381993