Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups

Autor:	Huey Jane Ho, Shuan-Pei Lin, Hsuan-Chieh Liao, Chih Jou Lai, Ming-Chih Ho, Chia Feng Yang, Chin Su Liu, Chuan Chi Chiang, Dau Ming Niu, Yin-Hsiu Chien, Hsiang-Yu Lin, Niang Cheng Lin, Ni-Chung Lee, Rey-Heng Hu, Wuh-Liang Hwu, Tzu Hung Chu
Jazyk:	angličtina
Rok vydání:	2019
Předmět:	Male 0301 basic medicine Newborn screening medicine.medical_specialty medicine.medical_treatment Taiwan Methylmalonic acidemia lcsh:Medicine 030105 genetics & heredity Liver transplantation Propionic acidemia Gastroenterology Cobalamin 03 medical and health sciences chemistry.chemical_compound Enteral Nutrition Neonatal Screening 0302 clinical medicine Admission time Internal medicine medicine Humans Pharmacology (medical) Amino Acid Metabolism Inborn Errors Genetics (clinical) business.industry Research Incidence (epidemiology) lcsh:R Infant Newborn Mean age General Medicine medicine.disease Hospitalization Treatment Outcome Caregivers chemistry Mutation Female business 030217 neurology & neurosurgery
Zdroj:	Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019) Orphanet Journal of Rare Diseases
ISSN:	1750-1172
DOI:	10.1186/s13023-019-1045-1
Popis:	Background Most patients with isolated methylmalonic acidemia (MMA) /propionic acidemia (PA) presenting during the neonatal period with acute metabolic distress are at risk for death and significant neurodevelopmental disability. The nationwide newborn screening for MMA/PA has been in place in Taiwan from January, 2000 and data was collected until December, 2016. Results During the study period, 3,155,263 newborns were screened. The overall incidence of MMA mutase type cases was 1/121,356 (n = 26), 1 cobalamin B was detected and that for PA cases (n = 4) was 1/788,816. The time of referral is 8.8 days for MMA patients, and 7.5 days for PA patients. The MMA mutase type patients have higher AST, ALT, and NH3 values as well as a lower pH value (p
Databáze:	OpenAIRE
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