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abdominal distension

abdominal fullness

abnormal movement

absent hair pigmentation (white hair or forelock)

adrenal atrophy (autopsy)

adrenal calcification

adrenal hyperplasia

adrenal insufficiency

Amino acid, spinal fluid

Amino acids, plasma

Amino acids, urine

aminoaciduria, generalized

anteverted nostril

aorta, coarction

aortic valvular disease

asymmetric chin or unilateral small mandible

asymmetric facies

atherosclerosis

atrial septal defect

autonomic dysfunction

basal ganglia, changes

behavior, abnormal or bizarre, confusion

behavior, autism or autistic-like

behavior, hyperactive, restless

behavior, self-mutilating or destructive

birthweight high (large for gestational age)

birthweight low (small for gestational age)

bladder divertikulae

bleeding tendencies, hemorrhages

blindness, visual loss, visual impairment

blue colored urine

bone marrow abnormality

brain malformation

brain stem defect

brain, cortical or paraventricular cysts

broad chin or mandible

broad forehead (wide)

broad nasal bridge

brown colored urine

brown or black colored urine

cardiac arrhythmia, dysrhythmia

cardiac involvement

carpal tunnel syndrome

cerebellar atrophy or hypoplasia

cerebellar signs

cerebral atrophy

cerebral calcifications

cerebral vascular disease

cherry-red spot on retinal macula

chorea or athetosis

chorioretinal colobomata

chorioretinitis

cirrhosis or fibrosis of liver

cleft eyelid (coloboma)

clitoral hypertrophy

clumsiness, coordination defect or unsteadiness

coarse facial features

cognitive impairment

congenital heart defect

congenital malformation

contractures, joints

corneal clouding

corneal deposits

coronary heart disease

corpus callosum, agenesis/hypoplasia

cortical or cerebral atrophy

costovertebral abnormalities

cranial synostosis

decreased body hair

decreased muscle volume, atrophy or hypoplasia

decreased weight for age, height and sex (<2 SD)

defect of adrenal gland or function

defect of deep tendon reflexes

defect of thymus gland

defect of thyroid gland

defect of trunk muscle, diaphragm or hiatus hernia

defect of upper limb muscle

defect of walking, running, rising or climbing

delay in opening eyes (postnatal)

demyelinisation

dentition delayed

dermatoglyphic abnormalities

diabetes insipidus

diabetes mellitus

dietary intolerance

dislocated lens (ectopia lentis)

disproportionate short stature

downward slanting fissure (antimongoloid slant)

dysostosis multiplex

ear anomalies (pits, creases)

eczematoid skin rush

endocardial fibroelastosis

enteropathy, protein-loosing

enuresis nocturna

epicanthus or medial eyelid fold

epiphyseal dysplasia

epiphyseal dysplasia

Erythropoietin [+]

exaggerated startle reflex

exercise intolerance

exposure to insulin during gestation

exposure to large amounts of alcohol during gestation

exposure to phenylalanine during gestation

extrapyramidal signs

eye defect beginning in adolescence or adulthood

eye defect beginning in infancy or childhood

eye movements, abnormal

facial bone defect

facial cleft (not cleft lip)

facial nerve palsy

facies, cherubic (dolls face)

facies, child like

failure to thrive

fainting (syncope)

fair (white) hair

Fanconi syndrome

fatigue, severe or unusual

feeding difficulties

feeding difficulties, poor feeding

femora, shortened

fetal akinesia/hypokinesia sequence

flat depressed nasal bridge (saddle nose)

flat facies (Potter facies)

foot deformities

frontal bossing

gallbladder abnormalities

gallstones, cholelithiasis

gastrointestinal hemorrhage (bleeding)

generalized muscle defect

generalized tooth defect

genital hypoplasia

genitalia, ambigous

gingiva, hyperplastic

growth retardation

hair, abnormal (thin, brittle)

hand movements, abnormal, stereotyped

head circumference

headache (severe, recurrent or occipital, migraine)

hearing defect, deafness

heart involvement

heat intolerance

hemihypertrophy

hemiparesis/hemiparetic cerebral palsy

Hemolytic-uremic-syndrome

high arched palate

high pitched cry

Homovanillic acid/vanillylmandelic acid (HVA/VMA) ratio

humeri, shortened

hydrops fetalis

hyperaldosteronism

hyperbilirubinemia

hyperinsulinism

hyperlacrimation

hyperparathyreoidism, secondary

hyperpigmentation

hypersalivation

hyperthyroidism

hypertonia, spasticity

hypoglycorrachia

hypoparathyreoidism

hypopigmentation

hypoplasia of optic nerve or disk

hypoplastic enamel (thin)

ichthyosiform nevi

ichthyosiform nevi

impaired visual acuity

increased body hair

increased growth velocity

increased hair pigmentation (hyperpigmented)

increased weight for age, height and sex (>2 SD)

infantile spasms

infections (local, abscesses)

infections (severe or recurrent)

infections (urinary tract)

inguinal hernia

insensitivity to pain

intermittant neurologic defect

intermittent muscle defect (episodic)

interstitial pneumonitis

intestinal atresia

intestinal malabsorption

intracranial hemorrhage

inverted nipples

joint effusions

joint hypermobilty, dislocations

joint stiffness

Kayser-Fleischer Ring

lactic acidosis

large chin (protruding)

large hands/feet

large mid-face (broad, prominent)

large nose (long, broad or bulbous)

large or wide mouth

learning disability

lethargy, drowsiness, malaise or sleep disorder

leukoencephalopathy

limb abnormalities, limb deformities

lipemia retinalis

liver carcinoma

liver involvement (acute, chronic, hepatitis)

long, broad, prominent philtrum

lower lip defect

lung hypoplasia

macrocephaly (large calvaria, >2 SD for age)

macroglossia, large/protuding tongue

malignant tumor (Wilms)

mandibular cyst, tumor or mass

maple sirup or caramel odor

masculinisation of the female

masklike facies (lack expression)

maternal acute fatty liver of pregnancy

menstrual irregularities

mental retardation

metabolic acidosis

metabolic alkalosis

metaphyseal dysplasia

methemoglobinemia

motor retardation

mousy body odor

multiple periarticular soft-tissue masses

multiple skin defects

muscle defect or fever with anesthesia

muscle paralysis

muscle stiffness

muscle swelling

muscle weakness

muscular rigidity

myelination, incomplete

myocardial infarction

myopathy, ragged red fibers

nail color, abnormal

narrow or stenotic nostril

nasal hypoplasia

nasal polyposis

nasal stuffiness

neck tumor, mass or cyst

nephrocalcinosis

nephrotic syndrome, congenital

neurologic defect at birth

neurologic defect onset in adolescence or adulthood

neurological deterioration

Neuron Specific Enolase (NSE)

neutropenia (decreased neutrophils)

night blindness

no clinical signs or symptoms

nodules, subcutaneous

non-progressive hearing defect

non-progressive muscle defect (static)

normal at birth

oast-house odor

obstructive airway disease

ocular chamber defect (glaucoma, buphthalmos)

oculogyric crisis

oligohydramnion (maternal)

onset of hair defect at birth (congenital)

onset of muscle defect (adolescence or adulthood)

onset of muscle defect during infancy or childhood

onset, adolescent

ophthalmoplegia

oral infections, gangrene

Organic acid, spinal fluid

Organic acids, plasma

Organic acids, urine

osteodystrophy, renal

oxygen therapy as neonate

pain, abdominal

pain, precardial

pancreatic insufficiency

paraparesis/paraplegia

pericardial effusion

peripheral gangrene

peripheral neuropathy

peripheral vascular disease

peritoneal effusions

photophobia or photosensitive defect in light-exposed area

pigmentation, skin and sclera

pleural effusions

polycystic ovaries

polydipsia (increased drinking)

polyhydramnion (maternal)

poor head control

portal hypertension

preeclampsia, maternal

premature tooth eruption

premature tooth loss or exfoliation

previous deaths

progressive eye defect

progressive muscle defect

progressive neurologic defect

prominent abdomen

prominent forehead

prominent lower face

prominent or high nasal bridge

pseudobulbar palsy

pseudocleft lip

pseudotumor cerebri

ptosis (drooping eyelid)

puberty, delayed or missing

pulmonary alveolar proteinosis

pulmonary valve, stenosis

punctate calcifications

pyloric stenosis

pyogenic infections

pyramidal signs

rancid, fishy or cabbage odor

recent memory loss

recurrent or intermittent skin defect

red colored urine

renal failure, acute/chronic

renal tubular acidosis

respiratory acidosis

respiratory alkalosis

respiratory distress

respiratory insufficiency

retinal or macular degeneration

retinitis pigmentosa

Rosenthal fibers

rotting fish odor

round facies (moon-face, broad)

seborrhoic skin rush

sepsis (E.coli)

sexual infantilism

shortened gestation time

skeletal changes

skin defect on face or ear (not forehead)

skin hyperelasticity

skin, pigmentation

skin, thickened

small chin or micrognathia

small mid-face (malar or maxillary hypoplasia)

small nose (short or absent)

solitary or localized skin defect

Soluble interleukin 2 receptor (sCD25)

sparse or absent scalp hair (focal or general)

spastic diplegia/quadriplegia

speech development, delayed, abnormal

speech difficulties

spinal cord demyelinisation

strokelike episodes

subdural haematoma

swallowing difficulties

sweaty feet odor

sweet body odor

swimming pool odor

tachykardia, paroxysmal

tachypnea, hyperpnea, dyspnea, respiratory distress

teleangiectasia

temperature instability

testes, undescended

testicular dysgenesis

tetralogy of fallot

thick or large lips

thin lips (narrow)

thin nose (pinched)

thromboembolism

thrombopenia, thrombocytopenia

tomcat's urine odor

tremor or twitching

triangular facies

trichorrhexis nodosa

umbilical hernia

upper lip defect

upward slanting fissure (mongoloid slant)

urinary tract defects

valvular heart disease

ventricular septal defect

vertebral changes

vertigo, dizziness

voice, high pitched

webbed neck (pterygium colli)

wide nasal bridge

X-ray, abnormalities