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 9
Phenotype entries for this disease 9
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

9 entries on 1 page. Showing entries 1 - 9.
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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
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