Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsy.
A 20-month-old boy of Jewish-Turkish origin presented with severe metabolic acidosis. He was born prematurely and had bacteremia during the neonatal period. Scaly skin eruption, developmental delay, generalized muscular hypertonia, and mild ventriculomegaly were noted during the 1st year. Holocarboxylase synthetase deficiency was diagnosed, and biotin and carnitine were administered. The skin rash and the organic aciduria resolved within several days, and at 30 months, his psychomotor development was appropriate for age. Metabolic evaluation should be performed in patients with combined neurologic and dermatologic symptoms even when medical history suggests a nonmetabolic etiology.
Livne
M
M
Pediatric Intensive Care Unit, Assaf Harofeh Medical Center, Zrifin, Israel.
Gibson
K M
KM
Amir
N
N
Eshel
G
G
Elpeleg
O N
ON
D001710:Biotin / Q000008:administration & dosage; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D019731:Carbon-Nitrogen Ligases; D002331:Carnitine / Q000008:administration & dosage; D002547:Cerebral Palsy / Q000175:diagnosis* / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008025:Ligases / Q000172:deficiency* / Q000235:genetics; D008297:Male; D009460:Neurologic Examination; D011296:Prenatal Diagnosis; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D014310:Triplets / Q000235:genetics
D001710:Biotin; D008025:Ligases; D019731:Carbon-Nitrogen Ligases; C023312:holocarboxylase synthetases; D002331:Carnitine