Hallazgos clínicos, bioquímicos y moleculares de la acidemia propiónica / Clinical, biochemical and molecular findings of propionic acidemia
Arch. argent. pediatr
; 117(3): 288-291, jun. 2019. ilus
Article
in Spanish
| LILACS, BINACIS
| ID: biblio-1001204
Responsible library:
AR94.1
RESUMEN
La acidemia propiónica es un trastorno infrecuente con patrón de herencia autosómico recesivo causado por la deficiencia de la enzima mitocondrial propionil-CoA carboxilasa, que convierte el propionil-CoA a D-metilmalonil-CoA. Se expone el caso de un recién nacido masculino con signos de dificultad respiratoria, vómitos y cansancio durante la alimentación. Presentó acidosis metabólica, cuerpos cetónicos en el suero y la orina positivos, hiperamonemia, anemia, trombocitopenia e hipoproteinemia. El estudio bioquímico por cromatografía de gases acoplada a espectrometría de masas en la muestra de orina fue sugestivo de acidemia propiónica. El estudio molecular en el gen PCCA encontró las mutaciones c.893A>G (p.K298R) en el padre y c.937C>T (p.R313X) en la madre. Existe la necesidad de establecer el diagnóstico de esta entidad infrecuente para implementar las medidas terapéuticas disponibles y aportar el oportuno asesoramiento genético.
ABSTRACT
Propionic acidemia is an infrequent disorder with an autosomal recessive inheritance pattern caused by the deficiency of the mitochondrial enzyme propionyl-CoA carboxylase that converts propionyl-CoA to D-methylmalonyl-CoA. We present the case of a male newborn who showed signs of respiratory distress, vomiting and tiredness during feeding. He presented metabolic acidosis, positive serum and urine ketone bodies, hyperammonemia, anemia, thrombocytopenia and hypoproteinemia. The biochemical study by gas chromatography coupled to mass spectrometry in a urine sample was suggestive of propionic acidemia. The molecular study in the PCCA gene found the mutations c.893A>G (p.K298R) in the father and c.937C> T (p.R313X) in the mother. There is a need to establish the diagnosis of this infrequent entity to implement the therapeutic measures available and provide the appropriate genetic counseling.
Full text:
Available
Collection:
International databases
Database:
BINACIS
/
LILACS
Main subject:
Inheritance Patterns
/
Methylmalonyl-CoA Decarboxylase
/
Propionic Acidemia
/
Genetic Counseling
Type of study:
Diagnostic study
Limits:
Humans
/
Male
/
Infant, Newborn
Language:
Spanish
Journal:
Arch. argent. pediatr
Journal subject:
Pediatrics
Year:
2019
Document type:
Article
Affiliation country:
Italy
/
Taiwan
/
Venezuela
Institution/Affiliation country:
IRCSS/IT
/
Taipei City Hospital/TW
/
Universidad de Los Andes/VE