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MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL OR EARLY ONSET FORM (HLCS)

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
21q22.13
E53.8
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)
Symptomsataxia
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