Holocarboxylase Synthetase Deficiency Treatment & Management

Updated: Nov 03, 2015
  • Author: Karl S Roth, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Treatment

Medical Care

Because of the acute and fulminant initial presentation of holocarboxylase synthetase (HCS) deficiency, treatment is almost always initiated in the hospital.

Once treatment has begun and the acute signs and symptoms have disappeared, the child may be safely discharged and observed on an outpatient basis.

A powdered form of biotin supplementation may be better digested than tablets for the treatment of neonatal holocarboxylase deficiency. [12]

 

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Surgical Care

No surgical procedures are necessary.

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Consultations

The patient and parents should consult a biochemical geneticist.

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Diet

No dietary restrictions are needed.

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Activity

No restriction is necessary.

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