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Disease	BIOTINIDASE DEFICIENCY
Synonym	MULTIPLE CARBOXYLASE DEFICIENCY, LATE ONSET; BIOTINIDASE DEFICIENCY
OMIM	253260 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	biotinidase Detailed enzyme information on www.expacy.ch
Gene locus	3p25
genetests.org	search search on genetest.org by MIM 253260 search search on genetest.org by BIOTINIDASE+DEFICIENCY Testing - View a listing of laboratories that provide clinical testing for this disorder Reviews - Read the GeneReview for this disorder Resources - View and p
Summary	1:60000 autosomal recessive preliminary studies fail to demonstrate clear genotype-phenotype correlations [Hymes J; 2001]
Clinical symptoms	alopecia ataxia cerebral atrophy coma conjunctivitis early death eczematoid skin rush encephalopathy fatigue, severe or unusual fetal akinesia/hypokinesia sequence hair loss hearing defect, deafness hyperammonemia hypertonia, spasticity hypotonia infantile spasms infections (severe or recurrent) ketosis lactic acidosis metabolic acidosis motor retardation muscle weakness onset, adolescent onset, child onset, infant onset, newborn optic atrophy seborrhoic skin rush seizures spastic diplegia/quadriplegia speech development, delayed, abnormal spinal cord demyelinisation stridor tachypnea, hyperpnea, dyspnea, respiratory distress vomiting
Abnormal Findings in blood	3-Hydroxyisovalerylcarnitine (C5-OH) \| Significant : - increased Ammonia Normal: 25.00-80.00 µmol/l \| Significant : 150.00-200.00 µmol/l Ketone bodies \| Significant : - increased Lactate, fed state Normal: 0.90-1.80 mmol/l \| Significant : 1.00-6.00 mmol/l pH Normal: 7.35-7.45 no unit \| Significant : 7.00-7.40 no unit
Abnormal Findings in plasma	3-Hydroxyisovaleric acid Normal: 0.00-19.00 µmol/l \| Significant : 10.00-166.00 µmol/l
Abnormal Findings in spinal fluid	2-Hydroxybutyrate Normal: 11.00-86.00 µmol/l \| Significant : 17.00-394.00 µmol/l 3-Hydroxybutyrate Normal: 20.00-60.00 µmol/l \| Significant : 7.00-882.00 µmol/l 3-Hydroxyisovaleric acid Normal: 0.00-18.00 µmol/l \| Significant : 10.00-300.00 µmol/l 3-Hydroxypropionic acid Normal: 0.00-9.50 µmol/l \| Significant : 0.00-15.00 µmol/l Citrate Normal: 90.00-590.00 µmol/l \| Significant : 60.00-170.00 µmol/l Lactate, spinal fluid Normal: 0.50-2.10 mmol/l \| Significant : 1.70-12.00 mmol/l
Abnormal Findings in urine	3-Hydroxyisovaleric acid Normal: 0.00-46.00 mmol/mol creatinine \| Significant : 50.00-500.00 mmol/mol creatinine 3-Hydroxypropionic acid Normal: 3.00-10.00 mmol/mol creatinine \| Significant : 20.00-500.00 mmol/mol creatinine 3-Methylcrotonylglycine Normal: 0.00-2.00 mmol/mol creatinine \| Significant : 5.00-50.00 mmol/mol creatinine Acylcarnitin \| Significant : - increased Lactate Normal: 0.00-25.00 mmol/mol creatinine \| Significant : 100.00-75000.00 mmol/mol creatinine Methylcitric acid Normal: 2.00-12.00 mmol/mol creatinine \| Significant : 10.00-50.00 mmol/mol creatinine
Treatment	biotin
Picture 61	Infant with partial biotinidase deficiency showing only minor skin changes
Literature	There are 21 publications available. Click here to open the relevant BIOTINIDASE DEFICIENCY publications
Ramedis Case reports with long term followup	There are 31 patient data available. Click here to open the list of BIOTINIDASE DEFICIENCY patients documented in Ramedis database