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Acidemia metilmalónica - Treatment

Tratamiento:

El tratamiento consiste en suplementos de cobalamina y carnitina, al igual que una dieta baja en proteínas. La dieta del niño se tiene que controlar de manera cuidadosa.

Si los suplementos no ayudan, el médico también puede recomendar una dieta que evite sustancias llamadas isoleucina, treonina, metionina y valina.

El trasplante de hígado o riñón (o ambos) ha demostrado que ayuda a algunos pacientes. Estos trasplantes le suministran al cuerpo nuevas células que ayudan a descomponer el ácido metilmalónico normalmente.

Expectativas (pronóstico):

Es posible que un paciente no sobreviva al primer ataque.

Posibles complicaciones:

Coma
Muerte
Insuficiencia renal

Cuándo contactar a un profesional médico:

Busque ayuda médica de inmediato si un niño está presentando una convulsión por primera vez. Si su hijo presenta signos de retraso o insuficiencia en el desarrollo, acuda al pediatra.

Reviewed last on: 5/1/2011
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Rezvani I. Defects in metabolism of amino acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.

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