All individuals with variants in gene BCKDHB

55 entries on 1 page. Showing entries 1 - 55.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00294210 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00294211 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294212 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295349 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00296610 Pat43 PubMed: Taylor 2014 - F - United Kingdom (Great Britain) British <01m - - - ? deceased; muscle affected; central nervous system not affected; heart not affected; liver not affected; congenital lactic acidosis, mtDNA depletion 1 1 Johan den Dunnen
00386504 - PubMed: Nair 2018 patient - - Lebanon - - - - - ? ketosis; lactic acidosis; elevated leucine-isoleucine-valine (metabolic) 1 1 Johan den Dunnen
00438292 Pat10 PubMed: Chuan 2022 - F - China - - - - - epilepsy HP:0001250 seizures; HP:0001998 neonatal hypoglycemia 2 1 Johan den Dunnen
00446898 - - - M yes Egypt Egyptian - - - MSUD formula MSUD1A progressive encephalopathy since day 5 after birth with poor suckling, vomiting, irritability and consequently lethargy so admitted in NICU when he was 8 days old. He developed convulsions with respiratory distress therefore, underwent mechanically ventilation and antibiotic regimen for presumptive neonatal sepsis but without improvement. Initial biochemical investigations showed metabolic acidosis and a mild elevated ammonia. Further biochemical analysis of expanded metabolic screening of amino acids and acylcarnitines at 18 days of age revealed marked elevated BCAAs in blood and nonspecific elevation of 4-OH phenyl lactate and 4-OH phenyl pyruvate on urine organic acid analysis by GC-MS 1 1 Zeinab Sayed Abdelkhalek
00450321 3bINP-004 PubMed: Vela-Amieva 2024 Parents with consanguinity and consanguinity (not molecularly tested) F yes Mexico Mexican - - - - MSUD1A Microcephaly, intellectual disability, inappropriate laughter, optic nerve atrophy, atrial septal defect, congenital hip dysplasia 1 1 Miriam Erandi Reyna-Fabián
00450471 3bINP-013 PubMed: Vela-Amieva 2024 Likely consanguinity M no Mexico Mexican - - - - MSUD1B - 1 1 Miriam Erandi Reyna-Fabián
00451365 3bINP-020 PubMed: Vela-Amieva 2024 Familial case (brother affected: died at 04m) M no Mexico Mexican - - - - MSUD1B Moderate intellectual disability, distal lower limb hypertrophy 2 1 Miriam Erandi Reyna-Fabián
00451632 3bINP-066 PubMed: Vela-Amieva 2024 Familial case (sister affected: died at 07m) M yes Mexico Mexican - - - - MSUD1B Mild intellectual disability, scoliosis, clubfoot 1 1 Miriam Erandi Reyna-Fabián
00451640 3bINP-077 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - MSUD1B Mild intellectual disability 2 1 Miriam Erandi Reyna-Fabián
00451644 3bINP-080 PubMed: Vela-Amieva 2024 Parents with inbreeding and consanguinity (not molecularly tested) F yes Mexico Mexican - - - - MSUD1B Severe intellectual disability, Seizures, Spasticity, Congenital hip dislocation. 1 1 Miriam Erandi Reyna-Fabián
00466239 Pat9 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD moderate; asymptomatic . She was diagnosed by newborn screening program due to family history of previous sib death with MSUD and she had no hospital admission. Positive family history of an elder sister with classic MSUD, moderate phenotype with rapid deterioration, NICU admission and ventilation in the first week. At the age of 3 month she developed convulsions. She was diagnosed at age of 6 month and started treatment. Then after 3 months she died with fever. 1 1 Johan den Dunnen
00466240 Pat10 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had one hospital readmission with metabolic crisis from diagnosis till now. 1 1 Johan den Dunnen
00466241 Pat11 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had neurological insult after the first metabolic crisis with development of seizures. She had no hospital readmission for crisis from diagnosis till now. 1 1 Johan den Dunnen
00466242 Pat12 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration to coma and NICU admission with ventilation. He had one hospital readmission from diagnosis with protein deficiency till now. 1 1 Johan den Dunnen
00466243 Pat13 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD mild; intermediate form of the disease. He presented with delayed milestones of development at the age of 3.5 months associated with attacks of convulsions. 1 1 Johan den Dunnen
00466244 Pat14 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD moderate; classic MSUD, with early coma at the age of 4 days followed by rapid deterioration that required ventilation for one month. She was, then, diagnosed by Ms/Ms and received treatment for MSUD. She was readmitted one time at 5 years of age due to metabolic crisis. 1 1 Johan den Dunnen
00466245 Pat15 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD presented with poor suckling, vomiting, lethargy, convulsions, irritability, and abnormal level of consciousness. He had frequent hospital readmissions. 1 1 Johan den Dunnen
00466246 Pat16 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD moderate; classic MSUD with rapid deterioration, hyperammonemia and NICU admission with ventilation. He had no hospital readmission from diagnosis till now. 1 1 Johan den Dunnen
00466247 Pat17 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration. He was admitted to NICU for 10 days and was ventilated. 1 1 Johan den Dunnen
00466248 Pat18 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD, developed poor suckling and convulsion on the second day after birth. He was admitted to NICU and ventilated for 30 days. He was then discharged undiagnosed. He was diagnosed by Ms/Ms at 5 months. He had multiple hospital readmissions for metabolic crisis. 1 1 Johan den Dunnen
00466249 Pat19 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD moderate; classic MSUD. He was normal till the age of 7 days. Then he developed poor suckling, lethargy, convulsions. EMS was done at the age of 60 days and was diagnostic for MSUD. The patient lost follow up after one year of age. 1 1 Johan den Dunnen
00466250 Pat20 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration and admission to NICU for 30 days. EMS was done at the age of 14 days, and was diagnostic for MSUD. No history of hospital readmission for metabolic decompensation from diagnosis till now. 1 1 Johan den Dunnen
00466251 Pat21 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD with rapid deterioration and admission to NICU with ventilation for 30 days. Then he was discharged undiagnosed. EMS was done at the age of 3 months and was diagnostic for MSUD. He had history of frequent hospital readmission for metabolic crisis. 1 1 Johan den Dunnen
00466252 Pat22 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration and admission to NICU with ventilation. The EMS was done at age of one month and was diagnostic for MSUD. At the age of 6 years, he was admitted to PICU with convulsions and coma. He had history of frequent hospital readmission for metabolic crisis. 1 1 Johan den Dunnen
00466268 Pat5 Journal: Jaradat 2016 2-generation family, affected (sister/brother), unaffected heterozygous carrier parents F yes Jordan - - - - - MSUD moderate developmental delay, hypotonia, mild brain atrophy 3 2 Johan den Dunnen
00466278 - Journal: Jaradat 2016 control - - Jordan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00466279 - Journal: Jaradat 2016 control - - Jordan - - - - - Healthy/Control - 1 34 Johan den Dunnen
00466280 - Journal: Jaradat 2016 control - - Jordan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00466281 - Journal: Jaradat 2016 control - - Jordan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00466282 - Journal: Jaradat 2016 control - - Jordan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00466283 - Journal: Jaradat 2016 control - - Jordan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00466284 - Journal: Jaradat 2016 control - - Jordan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00466286 Pat1 PubMed: Jaafar 2013, Journal: Jaafar 2013 2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents F yes Tunisia - 30d - - - MSUD - 1 1 Johan den Dunnen
00466287 Pat2 PubMed: Jaafar 2013, Journal: Jaafar 2013 2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents M yes Tunisia - - - - - MSUD - 1 1 Johan den Dunnen
00466291 msud002 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - MSUD classical MSUD 1 1 Johan den Dunnen
00466292 msud003 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Italy - - - - - MSUD classical MSUD 1 1 Johan den Dunnen
00466296 msud007 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Spain - - - - - MSUD classical MSUD 2 1 Johan den Dunnen
00466297 msud008;Pat10 PubMed: Henneke 2003, Journal: Henneke 2003, PubMed: Flaschker 2007 - - - Austria - - - - - MSUD variant MSUD 2 1 Johan den Dunnen
00466299 msud010 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - MSUD classical MSUD 1 1 Johan den Dunnen
00466301 msud013 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - MSUD classical MSUD 1 1 Johan den Dunnen
00466302 msud014 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Germany - - - - - MSUD classical MSUD 1 1 Johan den Dunnen
00466303 msud016 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Germany - - - - - MSUD classical MSUD 2 1 Johan den Dunnen
00466304 msud017 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - MSUD classical MSUD 1 1 Johan den Dunnen
00466307 msud012 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - MSUD classical MSUD 1 1 Johan den Dunnen
00466308 msud015 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Germany - - - - - MSUD classical MSUD 1 1 Johan den Dunnen
00466314 Pat31 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD mild (newborn screening, mild course) 2 1 Johan den Dunnen
00466315 Pat4 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD mild (asymptomatic) 2 1 Johan den Dunnen
00466316 Pat12 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD mild (intermittent) 2 1 Johan den Dunnen
00466317 Pat11 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD mild (intermittent) 2 1 Johan den Dunnen
00466318 Pat5 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD mild (asymptomatic) 1 1 Johan den Dunnen
00466319 Pat14 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD mild (intermittent) 2 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.