Which physical findings are characteristic of secondary carnitine deficiency?

Updated: Dec 13, 2019
  • Author: Fernando Scaglia, MD, FACMG; Chief Editor: Maria Descartes, MD  more...
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Answer

Secondary carnitine deficiency presents with clinical manifestations of fatty acid oxidation disorders.

Episodes of metabolic decompensation triggered by infection or fasting may present with lethargy that may be accompanied by seizures or apnea.

This encephalopathy may also present with hypotonia and hepatomegaly.

Signs of cardiac hypertrophy may be evident, with gallop or heart murmur on the cardiac examination. [10]

Less frequently, these patients may have other findings, such as pigmentary retinopathy, peripheral neuropathy, cardiac arrhythmias, or myoglobinuria.

Disorders such as glutaric aciduria type II or carnitine palmitoyltransferase II (CPT-II) deficiency can present with dysmorphic features, such as mid-facial hypoplasia and frontal bossing (Zellwegerlike phenotype) and congenital abnormalities of the abdominal wall.


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