217:
32:
409:
RodrĂguez-Pombo, Nouriya Al-Sannaa, Mariela De Los Santos, Jordi
Muchart LĂłpez, Hatice Ozturkmen-Akay, Meryem Karaca, Mustafa Tekin, Sonia Pajares, Aida Ormazabal, Stephanie D Stoway, Rafael Artuch, Marjorie Dixon, Lars Mørkrid, Angeles GarcĂa-Cazorla, BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening, Brain, 2023;, awad010,
386:
Constante JR, Tangeraas T, Backe PH, Mørkrid L, Oyarzábal A, Boemer F, Francois-Guillaume D, BOzturk-Hismi B, Gumus E, Al-Sannaa N, Machado I, Bueno C, Neugebauer J, Ummuhan O, Tuba E, Footitt E, Weinhold N, Artuch R, Martinez C, Tekin M, Ozturkmen-Akay H, Bacanli A, RodrĂguez-Pombo P, Karaca M,
339:
GarcĂa-Cazorla, A.; Oyarzabal, A.; Fort, J.; Robles, C.; CastejĂłn, E.; Ruiz-Sala, P.; Bodoy, S.; Merinero, B.; Lopez-Sala, A.; Dopazo, J.; Nunes, V.; Ugarte, M.; Artuch, R.; PalacĂn, M.; RodrĂguez-Pombo, P.; Alcaide, P.; Navarrete, R.; Sanz, P.; Font-LlitjĂłs, M.; Vilaseca, M. A.; Ormaizabal, A.;
408:
Trine
Tangeraas, Juliana R Constante, Paul Hoff Backe, Alfonso Oyarzábal, Julia Neugebauer, Natalie Weinhold, Francois Boemer, François G Debray, Burcu Ozturk-Hism, Gumus Evren, Eminoglu F Tuba, Oncul Ummuhan, Emma Footitt, James Davison, Caroline Martinez, Clarissa Bueno, Irene Machado, Pilar
251:
Continuous replenishment of BCAA levels has been reported to alleviate the symptoms in patients, combined with a high protein diet. Ongoing studies, not yet published, may indicate a greater improvement if the supplementation is administrated every 3 hours. When treatment was applied,
175:
According to Garcia-Cazorla (2020), there are currently 21 documented cases worldwide R.Constante, Juliana et al. reported a list of symptoms in a study of 20 cases. It was communicated in the 14th
European Paediatric Neurology Society Congress . Those symptoms included:
281:
Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG (October 2012).
106:
Later on, GarcĂa-Cazorla, Oyarzabal et al. confirmed that BCKDK mutations can result in neurobehavioral deficits in humans and support the rationale for dietary intervention. In their 2013 study, they found out BCAA
181:
144:
342:"Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients"
456:
83:(BCAA) in their organism due to accelerated breakdown of these essential amino acids. This results in delayed brain development, which may present as
537:
923:
784:
742:
257:
227:
645:
807:
449:
1105:
542:
1251:
1146:
1246:
442:
469:
1120:
1115:
119:) supplementation every 5 hours plus a high protein diet showed significant improvement for BCKDK deficit disease patients.
1037:
873:
160:
625:
1124:
264:, and the patient who started treatment earlier (8 months) experienced almost normal development at 3 years old.
928:
1173:
1141:
1009:
139:. R.Constante, Juliana et al. reported a list of symptoms in a study of 20 cases. Those symptoms included:
812:
388:
1215:
547:
1205:
1184:
856:
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1210:
1100:
817:
789:
557:
80:
504:
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136:
1005:
670:
185:
148:
132:
84:
1256:
999:
868:
650:
1154:
589:
252:(supplementation of 100–260 mg/kg/day and high protein diet), all patients improved in
1015:
965:
720:
477:
295:
8:
1220:
1071:
960:
620:
575:
552:
189:
152:
434:
389:"BCKDK deficiency: A treatable neurodevelopmental disease amenable to newborn screening"
299:
955:
878:
845:
514:
316:
284:"Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy"
283:
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697:
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321:
92:
55:
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1043:
860:
835:
349:
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60:
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88:
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1110:
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902:
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341:
307:
946:
762:
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325:
260:. None of the patients that started treatment before 2 years old developed
201:
164:
1095:
938:
410:
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567:
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353:
112:
43:
1085:
734:
730:
679:
665:
103:
The disease was first described in 2012 in three unrelated families.
25:
BCKDK (Branched Chain
Ketoacid Dehydrogenase Kinase) deficit disease
1080:
1025:
991:
979:
906:
893:
641:
599:
193:
156:
983:
707:
637:
612:
603:
529:
338:
280:
108:
39:
425:
771:
490:
261:
128:
116:
47:
385:
50:
are the branched-chain amino acids used to treat BCKDK deficit
76:
31:
429:
464:
381:
379:
377:
426:
Branched-chain keto acid dehydrogenase kinase deficiency
79:
gene. Patients with BCKDK deficiency have low levels of
69:
Branched-chain keto acid dehydrogenase kinase deficiency
374:
396:
14th
European Paediatric Neurology Society Congress
597:
1238:
538:3-hydroxy-3-methylglutaryl-CoA lyase deficiency
75:) is a disease resulting from mutations of the
924:6-Pyruvoyltetrahydropterin synthase deficiency
348:. Vol. 35, no. 4. pp. 470–477.
450:
808:2-Methylbutyryl-CoA dehydrogenase deficiency
1106:Carbamoyl phosphate synthetase I deficiency
543:3-Methylcrotonyl-CoA carboxylase deficiency
274:
127:BCKDK deficit disease symptoms may include
457:
443:
340:Pristoupilova, A.; AgullĂł, S. B. (2014).
315:
785:Isobutyryl-CoA dehydrogenase deficiency
1239:
611:
16:Autosomal recessive metabolic disorder
1121:Ornithine transcarbamylase deficiency
1116:N-Acetylglutamate synthase deficiency
438:
411:https://doi.org/10.1093/brain/awad010
122:
1038:Dopamine beta hydroxylase deficiency
211:
874:Methylmalonyl-CoA mutase deficiency
13:
14:
1268:
626:Glutathione synthetase deficiency
419:
256:, and half the patients reached
215:
30:
1252:Amino acid metabolism disorders
182:gross motor function impairment
145:gross motor function impairment
1247:Genetic diseases and disorders
929:Tetrahydrobiopterin deficiency
402:
332:
1:
1174:Lysinuric protein intolerance
548:3-Methylglutaconic aciduria 1
387:GarcĂa-Cazorla A (May 2022).
267:
170:
813:Beta-ketothiolase deficiency
246:
7:
1216:Ethylmalonic encephalopathy
91:. Patients may suffer from
10:
1273:
1206:2-Hydroxyglutaric aciduria
1185:Oculocerebrorenal syndrome
98:
81:branched chain amino acids
1211:Aminoacylase 1 deficiency
1198:
1140:
1101:Argininosuccinic aciduria
1070:
1060:
1024:
1010:Hermansky–Pudlak syndrome
978:
937:
914:
901:
891:
854:
826:
818:Maple syrup urine disease
798:
790:Maple syrup urine disease
770:
755:
729:
706:
678:
663:
588:
566:
558:Maple syrup urine disease
528:
489:
476:
54:
38:
29:
24:
500:Glutaric acidemia type 1
207:
204:, non present at birth.
178:neurodevelopmental delay
167:, non present at birth.
141:neurodevelopmental delay
89:autism spectrum disorder
1006:Oculocutaneous albinism
308:10.1126/science.1224631
186:intellectual disability
149:intellectual disability
133:intellectual disability
85:intellectual disability
1125:translocase deficiency
869:Methylmalonic acidemia
651:Glycine encephalopathy
224:This section is empty.
1155:Solute carrier family
470:amino acid metabolism
1016:Waardenburg syndrome
966:Tyrosinemia type III
721:Prolidase deficiency
346:Wiley online library
1221:Fumarase deficiency
961:Tyrosinemia type II
621:D-Glyceric acidemia
576:Hypertryptophanemia
553:Isovaleric acidemia
300:2012Sci...338..394N
190:language impairment
153:language impairment
137:developmental delay
956:Tyrosinemia type I
879:Propionic acidemia
846:Hypermethioninemia
515:Pipecolic acidemia
354:10.1002/humu.22513
123:Signs and symptoms
42:(pictured above),
1234:
1233:
1226:Trimethylaminuria
1136:
1135:
1132:
1131:
1056:
1055:
1052:
1051:
887:
886:
751:
750:
698:Urocanic aciduria
659:
658:
584:
583:
244:
243:
93:epileptic seizure
66:
65:
19:Medical condition
1264:
1181:Fanconi syndrome
1068:
1067:
1044:Brunner syndrome
912:
911:
899:
898:
836:Cystathioninuria
768:
767:
676:
675:
609:
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239:
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226:You can help by
219:
212:
73:BCKDK deficiency
61:Medical genetics
34:
22:
21:
1272:
1271:
1267:
1266:
1265:
1263:
1262:
1261:
1237:
1236:
1235:
1230:
1194:
1169:Iminoglycinuria
1164:Hartnup disease
1145:
1128:
1078:
1048:
1020:
996:Ocular albinism
974:
933:
916:Phenylketonuria
883:
850:
822:
794:
761:
747:
725:
716:Hyperprolinemia
702:
671:α-ketoglutarate
669:
655:
646:GAMT deficiency
580:
562:
524:
520:Saccharopinuria
493:/straight chain
472:
463:
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417:
416:
407:
403:
391:
384:
375:
366:
364:
337:
333:
294:(6105): 394–7.
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254:motor functions
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1103:
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1091:
1090:
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1076:Hyperammonemia
1065:
1058:
1057:
1054:
1053:
1050:
1049:
1047:
1046:
1040:
1034:
1032:
1030:Norepinephrine
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1021:
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988:
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885:
884:
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881:
876:
871:
865:
863:
852:
851:
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843:
841:Homocystinuria
838:
832:
830:
824:
823:
821:
820:
815:
810:
804:
802:
796:
795:
793:
792:
787:
782:
780:Hypervalinemia
776:
774:
765:
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739:
737:
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726:
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510:Hyperlysinemia
507:
502:
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439:
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432:
428:- a record in
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420:External links
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1257:Rare diseases
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1111:Citrullinemia
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970:Hawkinsinuria
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903:Phenylalanine
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758:propionyl-CoA
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41:
37:
33:
28:
23:
1063:oxaloacetate
947:Alkaptonuria
763:succinyl-CoA
693:Histidinemia
688:Carnosinemia
631:Sarcosinemia
466:Inborn error
404:
395:
365:. Retrieved
345:
334:
291:
287:
276:
258:normocephaly
250:
232:
228:adding to it
223:
202:microcephaly
174:
165:microcephaly
126:
105:
102:
72:
68:
67:
1096:Argininemia
939:Tyrosinemia
235:August 2022
200:, and also
163:, and also
1241:Categories
1190:Cystinosis
1159:Cystinuria
1072:Urea cycle
951:Ochronosis
828:Methionine
800:Isoleucine
568:Tryptophan
482:acetyl-CoA
367:2022-08-28
268:References
198:clumsiness
171:Prevalence
161:clumsiness
113:isoleucine
44:Isoleucine
1147:IE of RTT
1142:Transport
1086:aspartate
1042:reverse:
735:glutamine
731:Glutamate
680:Histidine
666:glutamate
247:Treatment
56:Specialty
1081:arginine
1026:Tyrosine
992:Albinism
980:Tyrosine
907:tyrosine
894:fumarate
855:General
642:Creatine
600:pyruvate
362:24449431
326:22956686
194:epilepsy
157:epilepsy
984:Melanin
708:Proline
638:Glycine
613:Glycine
604:citrate
530:Leucine
317:3704165
296:Bibcode
288:Science
109:leucine
99:History
40:Leucine
772:Valine
743:SSADHD
505:type 2
491:Lysine
360:
324:
314:
262:autism
129:autism
117:valine
115:, and
48:valine
46:, and
1199:Other
398:: 55.
392:(PDF)
208:Cause
77:BCKDK
430:OMIM
358:PMID
322:PMID
196:and
159:and
135:and
87:and
468:of
350:doi
312:PMC
304:doi
292:338
230:.
1243::
1183::
1157::
1061:G→
994::
892:G→
861:OA
857:BC
756:G→
664:G→
644::
598:G→
394:.
376:^
356:.
344:.
320:.
310:.
302:.
290:.
286:.
192:,
188:,
184:,
180:,
155:,
151:,
147:,
143:,
131:,
111:,
95:.
1144:/
1123:/
1088:)
1079:(
1074:/
1028:→
1012:)
1008:(
1002:)
1000:1
998:(
982:→
968:/
949:/
905:/
859:/
760:→
733:/
668:→
640:→
602:→
590:G
480:→
478:K
458:e
451:t
444:v
370:.
352::
328:.
306::
298::
237:)
233:(
107:(
71:(
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
