respiratory distress

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respiratory distress

Associated Diseases	Laboratory Findings	Clinical Symptoms
3-METHYLGLUTACONIC ACIDURIA (TYPE I) MIM:250950 5-OXOPROLINASE DEFICIENCY MIM:260005 ASPHYXIA [DD] BENIGN INFANTILE MITOCHONDRIAL MYOPATHY (BIMM) BENIGN INFANTILE MITOCHONDRIAL MYOPATHY AND CARDIOMYOPATHY (BIMC) CHONDRODYSPLASIA PUNCTATA, CONRADI HUNERMANN MIM:118650 CONGENITAL ALVEOLAR PROTEINOSIS MIM:265120 DIABETES, FETAL EFFECTS FROM MATERNAL HYPER BETA-ALANINEMIA MIM:237400 ISOVALERIC ACIDEMIA MIM:243500 LYSINURIC PROTEIN INTOLERANCE (LPI) MIM:222700 METHYLMALONIC ACIDURIA (MMA) MIM:251000 PROPIONIC ACIDEMIA MIM:606054 SEPSIS, NEONATAL [DD]	2-Hydroxybutyric acid 2-Hydroxyisovaleric acid 2-Methyl-cis-aconitic acid 2-Oxo-3-methylvaleric acid 2-Oxoisocaproic acid 3-Aminoisobutyric acid 3-Hydroxybutyric acid 3-Hydroxyisovaleric acid 3-Hydroxypropionic acid 3-Hydroxyvaleric acid 3-Methylglutaconic acid 3-Methylglutaconyl-CoA hydratase 3-Methylglutaric acid 3-Methylmalic acid 4-Hydroxy-3-methoxymandelic acid 4-Hydroxyisovaleric acid 4-Hydroxyphenyllactic acid 5-Oxoprolinase 5-Oxoproline Acetyltryptophan Acylcarnitin urine Ammonia Arginine beta-Alanine beta-Aminoisobutyric acid Calcium Carnitine Chloride Complex I activity Complex IV activity Creatinine kinase Creatinine CRP Cytochrome c oxidase EEG abnormalities [-] Ferritin gamma-Aminobutyric acid Glucose Glutamine Glycine Human growth hormone (hGH) Human growth hormone (hGH) Hydroxyproline Hypoxanthine Insulin Isovaleryl/2-Methylbutyrylcarnitine (C5) Isovalerylasparagine Isovalerylglycine Isovalerylhistidine Isovaleryllysine Isovaleryltryptophan Ketone bodies Lactate dehydrogenase (LDH) Lactate Lactate/Creatinine ratio Lysine Malondialdehyde Methylcitric acid Methylfumaric acid Methylmalonic acid Methylmalonyl CoA mutase Methylmalonylcarnitine (C4DC) Methylsuccinic acid MRI brain abnormalities [-] MRI brain gray matter abnormalities [-] Myoglobin no specific laboratory findings Ornithine Orotic acid pCO2 pH Propionic acid Propionyl CoA carboxylase Propionylcarnitine (C3) Propionylglycine Retikulocytes S100B protein Sodium Taurine Thrombocytes Platelets Thyroxine binding globuline (TBG) Tiglylglycine ultrasound cranial abnormalities [-] Uric acid Uric acid/creatinine	adrenal insufficiency alopecia Amino acid, spinal fluid Amino acids, plasma Amino acids, urine anemia apnea behavior, hyperactive, restless birthweight high (large for gestational age) birthweight low (small for gestational age) bleeding tendencies, hemorrhages bone fractures bone marrow abnormality cardiomegaly cardiomyopathy cataract cerebellar atrophy or hypoplasia chorea or athetosis cleft palate coma congenital heart defect congenital malformation decreased body hair defect of deep tendon reflexes dehydration diarrhea dysmorphism early death encephalopathy Erythropoietin [+] exposure to insulin during gestation failure to thrive feeding difficulties, poor feeding fever flat depressed nasal bridge (saddle nose) glaucoma growth retardation hair, abnormal (thin, brittle) hearing defect, deafness high arched palate hyperammonemia hyperbilirubinemia hyperinsulinism hyperkeratosis hypertelorism hypertonia, spasticity hypocalcemia hypoglycemia hypothermia hypotonia ichthyosis interstitial pneumonitis intracranial hemorrhage jaundice ketosis lactic acidosis large liver large spleen lethargy, drowsiness, malaise or sleep disorder limb abnormalities, limb deformities macrosomia mental retardation metabolic acidosis microcephaly microphthalmus motor retardation muscle weakness nephrosis Neuron Specific Enolase (NSE) neutropenia (decreased neutrophils) no clinical signs or symptoms nystagmus onset, child onset, fetus onset, infant onset, newborn optic atrophy Organic acids, plasma Organic acids, urine osteoporosis pain, abdominal pancreatitis paraparesis/paraplegia petechiae polycythemia prematurity pulmonary alveolar proteinosis punctate calcifications pyloric stenosis recurrent or intermittent skin defect renal failure, acute/chronic respiratory acidosis respiratory distress respiratory insufficiency seizures shortened gestation time spastic diplegia/quadriplegia speech development, delayed, abnormal strokelike episodes sweaty feet odor tachypnea, hyperpnea, dyspnea, respiratory distress thrombopenia, thrombocytopenia urolithiasis vomiting X-ray, abnormalities