Disease #00057 (MSUD1A (maple syrup urine disease, type Ia), OMIM:248600)

Official abbreviation MSUD1A
Name maple syrup urine disease, type Ia
OMIM ID 248600
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 10
Phenotype entries for this disease 10
Associated with 1 gene BCKDHA
Associated tissues -
Disease features -
Remarks -
Date created 2012-09-21 17:10:19 +02:00 (CEST)
Date last edited 2024-05-25 09:39:48 +02:00 (CEST)


Individuals

10 entries on 1 page. Showing entries 1 - 10.
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00000207 patient PubMed: Oyarzabal 2013 2-generation family, 1 affected, unaffected heterozygous father F no Spain white >21y - - - MSUD1A - PPM1K PPM1K 2 1 Alfonso Luis Oyarzábal Sanz
00180974 - - - F - Spain - - - - - MSUD1A (HPO:0010910) Hypervalinemia (HPO:0010911) Hyperleucinemia (HPO:0010913) Hyperisoleucinemia BCAT2 BCAT2 2 1 Belen Perez
00181057 - - - - - - - - - - - MSUD1A - BCKDHA BCKDHA 2 1 Belen Perez
00309859 M015 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - MSUD1A see paper; ... BCKDHA BCKDHA 1 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 - BCKDHB 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 BCKDHB BCKDHB 1 1 Miriam Erandi Reyna-Fabián
00451630 3bINP-062 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - MSUD1A - BCKDHA BCKDHA 2 1 Miriam Erandi Reyna-Fabián
00451637 3bINP-069 PubMed: Vela-Amieva 2024 Likely consanguinity. Co-occurrence of two different monogenic diseases. M no Mexico Mexican - - - - MSUD1A Global developmental delay, Spasticity, Amblyopia DBT ABCA4, DBT 2 1 Miriam Erandi Reyna-Fabián
00451662 3bINP-104 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - MSUD1A Global developmental delay DBT DBT 1 1 Miriam Erandi Reyna-Fabián
00483770 MSUD-007 PubMed: Fernandez-Lainez 2018 - M no Mexico Mexico - - - Branched chain amino acids restricted diet MSUD1A - BCKDHA BCKDHA 1 1 Miriam Erandi Reyna-Fabián
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