OMIM = Online Medalian Inheritance of Men
  • biotin
rare (1:60000)
autosomal recessive
mutation in the BTD gene
preliminary studies fail to demonstrate clear genotype-phenotype correlations [Hymes J 2001]
cerebral atrophy
developmental delay
early death
fatigue, severe or unusual
fetal akinesia/hypokinesia sequence
hair loss
hearing defect, deafness
hypertonia, spasticity
infantile spasms
infections (severe or recurrent)
ketosis, ketoacidosis
lactic acidosis
metabolic acidosis
motor retardation
muscle weakness
onset, adolescent
onset, childhood
onset, infancy
onset, neonatal
optic atrophy
skin rash, eczematous or seborrhoic
spastic diplegia/quadriplegia/tetraplegia
speech development, delayed, abnormal
spinal cord demyelinisation
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
3-Methylcrotonylglycine5.0050.000.002.00mmol/mol creatinineurine
3-Hydroxypropionic acid20.00500.004.0030.00mmol/mol creatinineurine
Methylcitric acid10.0050.002.0012.00mmol/mol creatinineurine
3-Hydroxybutyric acid7.00882.0020.0060.00-Ámol/lcerebrospinal fluid
Lactic acid300.0075000.003.5029.30mmol/mol creatinineurine
3-Hydroxyisovaleric acid10.00300.000.0018.00-Ámol/lcerebrospinal fluid
3-Hydroxyisovaleric acid10.00166.000.0019.00-Ámol/lplasma
3-Hydroxypropionic acid0.0015.000.009.50-Ámol/lcerebrospinal fluid
Lactic acid1.7012.000.501.80mmol/lcerebrospinal fluid
Citric acid60.00170.0090.00590.00-Ámol/lcerebrospinal fluid
2-Hydroxybutyric acid17.00394.0011.0086.00-Ámol/lcerebrospinal fluid
3-Hydroxyisovaleric acid50.005000.0010.0066.00mmol/mol creatinineurineChildhood
Lactic acid1.006.000.901.80mmol/lblood
pH7.007.407.357.45no unitblood
Ketone bodies +/+++blood
Acylcarnitine0.000.00 increasedurineno data
3-Hydroxyisovalerylcarnitine (C5-OH) increasedblood
Biocytin0.000.00 mmol/mol creatinineurine
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