What is BIOTINIDASE DEFICIENCY?

rare (1:60000) autosomal recessive mutation in the BTD gene preliminary studies fail to demonstrate clear genotype-phenotype correlations [Hymes J 2001] Clinical findings of patients with partial BD reported in the literature show that it can occur from infancy to adulthood [Canda E 2020]

BIOTINIDASE DEFICIENCY

Disease	BIOTINIDASE DEFICIENCY
Synonym	MULTIPLE CARBOXYLASE DEFICIENCY, LATE ONSET; BIOTINIDASE DEFICIENCY
OMIM	253260 OMIM = Online Mendelian Inheritance of Men
Orphanet	79241
Protein (UniProt)	biotinidase
ExPASy	3.5.1.12
Gene locus	3p25.1
ICD	E53.8
Summary	rare (1:60000) autosomal recessive mutation in the BTD gene preliminary studies fail to demonstrate clear genotype-phenotype correlations [Hymes J 2001] Clinical findings of patients with partial BD reported in the literature show that it can occur from infancy to adulthood [Canda E 2020]
Laboratory findings	3-Hydroxyisovaleric acid inc (urine) 3-Hydroxyisovalerylcarnitine (C5-OH) inc (blood) Methylcitric acid inc (urine) 3-Hydroxypropionic acid inc (urine) 2-Hydroxybutyric acid inc (cerebrospinal fluid) 3-Hydroxybutyric acid inc (cerebrospinal fluid) 3-Hydroxyisovaleric acid inc (plasma) 3-Hydroxyisovaleric acid inc (cerebrospinal fluid) 3-Hydroxypropionic acid inc (cerebrospinal fluid) 3-Methylcrotonylglycine inc (urine) Acylcarnitine (C2) inc (urine) Alanine n/i (cerebrospinal fluid) Ammonia inc (blood) Biocytin inc (urine) Biotinidase dec (plasma) Citric acid normal/dec (cerebrospinal fluid) L-Lactic acid normal/inc (cerebrospinal fluid) L-Lactic acid inc (urine) L-Lactic acid normal/inc (blood) pH normal/dec (blood) Pyruvic acid inc (urine)
Symptoms	ataxia corneal erosion hearing defect, deafness skin rash, eczematous or seborrhoic speech development, delayed, abnormal conjunctivitis oral infections, ulcerations, gangrene alopecia developmental delay dyspnea fetal akinesia/hypokinesia sequence glossitis hair loss myelopathy optic atrophy seizures stomatitis stridor tachypnea, hyperpnea, dyspnea, hyperventilation valvular heart disease vision loss anemia cardiac involvement, cardiac defects cerebral atrophy coma early death encephalopathy fair hair fatigue, severe or unusual feeding difficulties, poor feeding hair, abnormal (thin, brittle, fine) hepatomegaly (large liver) hyperammonemia hypertonia, spasticity hypotonia infantile spasms infections (severe or recurrent) lactic acidosis lethargy, drowsiness, apathy metabolic acidosis motor retardation muscle weakness onset, adolescent onset, childhood onset, infancy onset, neonatal spastic diplegia/quadriplegia/tetraplegia splenomegaly (large spleen) vomiting