Baby sensor 100+

Possible interpretation of the results

By analyzing 250 metabolites in the urine, a chromatographic profile (chromatogram) of the sample is created, which is compared to the normal values ​​of each disease.

The detected metabolic diseases are classified into 4 types - A, B, C, D - according to the type of possible intervention:

• Type A – preventive and curative measures are effective for identified conditions
• Type B – the prevention of the identified condition is difficult, however, the correct diagnostics of complications
  It is important for prevention and treatment
• Type C – These disorders cause complications in only 10% of cases requiring treatment.
  90% of people will have no symptoms at all
• Type D – existing disorders have a serious impact on health, early diagnostics
  Even in conditions, however, the correct diagnostics of symptomatic treatment and complications
  provides an opportunity for prevention

Taking some drugs or infusion therapy can cause a change in the concentration of one or another metabolite in the urine; Therefore, it is necessary to correlate the obtained results with clinical data. If the child is taking any medications and/or supplements, please list them.

Type A – preventive and curative measures are effective for identified conditions

• Alkaptonuria (cartilage damage)
• Biotinidase deficiency (scaly perioral rash, facial rash, mental retardation)
• Glutaric aciduria type I (large head, with limited movement)
• Hartnapp's disease (increased sensitivity to light and visual effects)
• Homocystinuria (mental retardation)
• 3-hydroxy-3-methylglutaryl-CoA-lyase deficiency (severe metabolic acidosis without ketosis, developmental delay)
• Isovaleric acidemia (shivering due to hypothermia, sweating of the feet and odor)
• 2-ketoadipic aciduria (developmental delay and other neurological problems)
• Maple syrup urine disease (MSUD) (neurological disturbances, lethargy, sweet-smelling urine and burnt sugar body odor)
• 3-methylcrotonyl-CoA carboxylase deficiency (acute metabolic acidosis with developmental delay)
• Ornithine transcarbamylase deficiency (irritability, developmental delay)
• Phenylketonuria (PKU) (developmental delay and behavioral disorders)
• Propionic acidemia (lethargy, poor appetite, hypotension)
• Transient tyrosinemia of newborns (prolonged jaundice, lethargy)
• Type I tyrosinemia (urine with the smell of cabbage, liver dysfunction)
• Fructose-1,6-diphosphatase deficiency (hypoglycemia with ketosis)
• Galactosemia (liver dysfunction)
• Multiple deficiency of carboxylases (metabolic acidosis, decreased muscle tone, developmental delay)
• Neuroblastoma (spontaneous regression)
• Primary hyperoxal type 1 (renal colic with stones)
• Tyrosinemia due to liver dysfunction (liver dysfunction)
• Hypermethioninemia (unusual facial features, neurological problems, delayed motor development)
• Xanthinuria (acute kidney failure)
• Arginine succinic aciduria (mental and motor retardation)
• Citrullinemia type 1 (lethargy and perverted behavior)
• cystathionuria (liver dysfunction)
• Xanthine aciduria (mental retardation)
• Very long chain acyl-CoA dehydrogenase deficiency (muscle weakness, persistent muscle pain)
• Medium-chain acyl-CoA dehydrogenase deficiency (developmental delay)
• Short-chain acyl-CoA dehydrogenase deficiency (low blood sugar, lethargy)
• Adenosine deaminase deficiency (ear and upper respiratory tract infections)
• Formaminoglutamic aciduria (megaloblastic anemia)
• Transient galactosemia (poor weight gain with liver dysfunction)
• 5-oxoprolinuria (convulsions, mental retardation and loss of coordination)
• Hyperglycinuria (ketotic) (developmental delay)
• NICCD (liver dysfunction)
• Congenital lactose intolerance (developmental delay)
• Hyperuricemia (sensorineural hearing loss, urolithiasis)
• Benign hyperphenylalaninemia (eczema and pale hair and skin)
• Methylmalonic acidemia (MMA) – Cbl C, D (development of the following clinical disorders: hematological, neurological, metabolic, ophthalmological and dermatological)
• Methylmalonic aciduria, cblA and cblB forms (MMA, Cbl A,B) (weak muscle tone [hypotonia], developmental delay, fatigue easily, lethargy, enlarged liver)
• Beta-ketothiolase (BTK) deficiency (vomiting, dehydration, difficulty breathing, extreme tiredness [lethargy], and sometimes seizures)
• Primary hyperoxal type 2 (kidney stones, kidney damage, kidney failure and other organ damage)
• Glycerol Kinase Deficiency (Growth Retardation)

Type B – the condition is difficult to prevent, however, correct diagnostics is important for the prevention and treatment of complications

• Carbamoylphosphate synthetase 1 deficiency (neurological complications)
• Type II glutaric aciduria (foot odor and breathing problems, mental and motor retardation)
• Hyperleucine-isoleucineemia (convulsions, developmental delay)
• Lysine protein intolerance (poor weight gain)
• 3-methylglutaconic aciduria (cardiomyopathy and skeletal muscle myopathy, growth retardation, male genitalia defect)
• Methylmalonic semialdehyde dehydrogenase deficiency (metabolic acidosis, lethargy, seizures)
• Mevalonic aciduria (abnormal head shape, delay of an important stage of development)
• N-acetylglutamate/carbamylphosphate synthetase deficiency (neurological complications)
• Orotic aciduria (heart disease and anemia)
• Canavan disease (severe gradual regression)
• Type II tyrosinemia (eyes sensitive to light, developmental delay)
• Type III tyrosinemia (moderate mental retardation, seizures, difficulty balancing)
• Tryptophanuria with dwarfism (short stature, mental retardation)
• Imidazolaminoaciduria (convulsions, developmental delay)
• Hyperglycinuria (nonketotic) (relaxation, poor muscle tone (hypotension), seizures, mental retardation, neurological disorders)
• 3-Hydroxyisobutyryl-CoA deacylase deficiency (delayed motor development, decreased muscle tone, multiple spinal anomalies)
• Citrullinemia type II (anxiety, memory loss, inappropriate behavior, seizures, and coma)
• Biopterin cofactor biosynthesis defects (BIOPT BS) (developmental delay, seizures, behavioral problems)
• Defects Biopterin Cofactor Regeneration Defects (BIOPT REG) (Mental Retardation, Movement Disorders, Dysphagia, Seizures)
• Galactokinase deficiency (GALK) (developmental delay, cataracts, enlarged liver and spleen)
• Galactose epimerase deficiency (GALE) (cataracts, growth and developmental delay, mental retardation, liver and kidney disease)
• Isobutyryl-CoA dehydrogenase (IBD) deficiency (anemia, poor muscle tone, developmental delay)
• Malonic acidemia (MAL) (hypoglycemia, vomiting, diarrhea, seizures)
• Methylmalonyl-CoA mutase (MUT) deficiency (severe keto and organic acidosis, psychomotor dysfunction, developmental delay, dystonia)
• Mitochondrial trifunctional protein deficiency (weakness, hypoglycemia, poor muscle tone [hypotension], liver problems)
• Glutathioneuria (hemolytic anemia)

Type C – These disorders cause complications in only 10% that require treatment. 90% of people will have no symptoms at all

• Familial renal immunoglycinuria (mental retardation, deafness, blindness, kidney stones, hypertension)
• Hyperhydroxyprolinemia (mental retardation)
• Iminoglycinuria (mental retardation and kidney problems)
• Fructosuria (hepatomegaly, jaundice, cirrhosis, seizures and mental retardation)
• Hypersarcosinemia (visual impairment, cardiomyopathy, cranial synostosis, growth and mental retardation)
• Type I hyperprolinemia (neurological or psychiatric problems)
• Type II hyperprolinemia (seizures, mental retardation)
• Saccharopinuria (psychomotor retardation, epilepsy, spasticity, ataxia, short stature)
• Histidinemia (mental retardation, kidney defect)
• Serum carnosinase deficiency (decreased muscle tone, delayed development)
• Endogenous sucrose (mental retardation)
• Hydroxylysinuria (mental retardation, behavioral problems, and hyperactivity)
• D-glycerinic aciduria (poor weight gain)
• Lysinuria (mental retardation)
• Hawkinsuria (liver dysfunction)

Type D – existing disorders have a serious impact on health, even in early diagnostics, although correct diagnostics allows symptomatic treatment and prevention of complications.

• Deficiency of dihydrolipoyl dehydrogenase (E3) (sweet smell in urine and smell of burnt sugar on body)
• Valinemia (developmental disorder, vomiting and developmental delay)
• Lesch-Nyhan syndrome (mental retardation, habit of self-biting)
• Dihydropyrimidinase deficiency (neonatal seizures)
• Zellweger-like syndrome (decreased muscle tone, severe retardation)
• Zellweger syndrome (decreased muscle tone, dysmorphic features)
• Fumarate hydrase deficiency (convulsions, with severe retardation)
• thymic uraciluria (mental retardation)
• Hyperammonemia Hyperornithineemia Homocitrullinuria syndrome (HHH) (vomiting, lethargy, developmental delay, learning disability)
• Pyruvate decarboxylase deficiency (developmental delay, psychomotor retardation, vision problems)
• Pyruvate carboxylase deficiency (respiratory problems)
• Pyruvate dehydrogenase (E1) deficiency (poor nutrition, lethargy and breathing problems)
• Pyruvate dehydrogenase phosphatase deficiency (lactic acidosis, with decreased muscle tone)
• Adenine phosphoribosyltransferase deficiency (urinary tract infection)
• Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase (kidney stones, movement problems)
• Succinic semialdehyde dehydrogenase deficiency (weak muscle tone [hypotonia], weak reflexes, seizures, and nonprogressive gait disturbances)
• Histidine (mental retardation, various facial features)
• Leigh syndrome (general weakness with heart problems)
• Infantile Refsum disease (blindness and hearing problems, retinitis pigmentosa)
• Neonatal adrenoleukodystrophy (muscle wasting)
• Beta-aminoisobutyric aciduria (neurological disorder)
• Hyperpipecolatemia (severe developmental delay)
• Ethylmalonic aciduria (developmental delay, coma)
• Aminoacylase I deficiency (deafness, muscle weakness, cerebral atrophy)