| MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL OR EARLY ONSET FORM (HLCS) | |
| HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | |
|
253270
OMIM = Online Mendelian Inheritance of Men | |
|
79242 | |
| Biotin--protein ligase | |
| 6.3.4.10 | |
| rare (<1:200.000) autosomal recessive mutation in the HLCS gene | |
| Laboratory findings | Pyruvic acid inc (urine) 3-Hydroxyisovaleric acid inc (urine) 3-Hydroxyisovalerylcarnitine (C5-OH) inc (plasma) 3-Hydroxyisovalerylcarnitine (C5-OH) inc (urine) 3-Hydroxypropionic acid inc (urine) 3-Hydroxyvaleric acid inc (urine) 3-Methylcrotonylglycine inc (urine) Ammonia inc (blood) Ketone bodies (urine) inc (urine) L-Lactic acid inc (plasma) L-Lactic acid inc (urine) Methylcitric acid inc (urine) pH dec (blood) Tiglylglycine inc (urine) |
| Symptoms | ataxia lethargy, drowsiness, apathy seizures vomiting alopecia bulbar dysfunction dermatitis skin rash, eczematous or seborrhoic valvular heart disease coma developmental delay early death encephalopathy feeding difficulties, poor feeding hyperammonemia hypotonia infections (severe or recurrent) irritability ketosis, ketoacidosis mental retardation metabolic acidosis motor retardation MRI, brain, abnormalities [-] onset, childhood onset, infancy onset, neonatal Organic acids, urine tachypnea, hyperpnea, dyspnea, hyperventilation thrombopenia, thrombocytopenia |