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The life-span of Menkes syndrome patients is discussed in connection with a boy suffering from this disease who lived to the age of 13.5 years. The copper metabolism defect is described. Therapeutic trials, mainly copper substitution, and prospects are summed up.

We report the identification of two new 7-year-old patients with 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency, a recently described inborn error of isoleucine metabolism. The defect is localized one step above 3-ketothiolase, resulting in a urinary metabolite pattern similar to that seen for deficiency of the latter. One patient has progressive neurodegenerative symptoms, whereas the clinical phenotype of the other patient is characterized by psychomotor retardation without loss of developmental milestones. A short-term biochemical response to an isoleucine-restricted diet was observed in both children.

Propionic acidemia is often manifested during the neonatal period with vomiting, failure to thrive, lethargy, and hyperammonemic coma when catabolism is prolonged. Mild lactic acidosis frequently accompanies metabolic decompensation. We present two patients with propionic acidemia whose initial manifestation was complicated by severe lactic acidosis caused by thiamine deficiency, which resulted from an inadequate supply of, and an increased need for, thiamine during metabolic stress. To prevent acute thiamine deficiency, we propose early vitamin supplementation during treatment of any severe metabolic decompensation accompanied by insufficient food intake.

Background The evaluation of the disease of vitamin K deficiency bleeding (VKDB).Method 108 reported cases between 1980 and 1990 from Germany.Results VKDB occurs preferentially (90%) in fully breastfed infants, males are affected nearly twice as often as females. The peak age is four weeks; the majority (79%) of the infants are between three and seven weeks old. 58% of the patients suffer from intracranial bleeding, which results in a total mortality rate of 19% and in neurological damage in 21%. Generally the VKDB occurred suddenly as no warning signs were noticed or they were so insignificant as not to be heeded. In at least 37% of the patients cholestasis was detected. The Quick value was pathologically low in every case. Vitamin K dependent factors were low and PIVKA was detectable, whereas vitamin K independent hemostatic parameters were normal or even elevated. The combination of low Quick value and normal fibrinogen as well as platelet level is a good diagnostic indicator which can be confirmed by administration of vitamin K, after which the Quick value will rise within 30 minutes. Vitamin K prophylaxis reduces the incidence of VKDB from 5.13 per 100000 births to a tenth of that; single dose oral prophylaxis reduces the risk by a factor of 3.3 and a single parenteral dose by 14.3. Parenteral prophylaxis is more effective in patients with hepatobiliary disorders. Patients who suffered VKDB despite having received vitamin K prophylaxis are older at onset (without prophylaxis 32 days, with oral prophylaxis 37 days, and with parenteral prophylaxis 63 days) and have less intracranial bleeding (35%) than patients who received none (62%).Conclusion Late form of VKDB is a rare but serious disease which can be prevented by VK-prophylaxis. Hintergrund Beschreibung der Spatform der Vitamin-K-Mangelblutung (VKMB).Methode Auswertung von 108 Krankengeschichten aus Deutschland zwischen 1980 bis 1990.Ergebnisse VKMB tritt bevorzugt (90%) bei vollgestillten Sauglingen auf, fast doppelt so oft bei mannlichen Sauglingen. Der Altersgipfel liegt in der 4. Woche, der Grosteil (79%) der Sauglinge ist zwischen 3 und 7 Wochen alt. 58% der Patienten haben intrakranielle Blutungen, die eine Gesamt-Letalitat von 19% und neurologische Dauerschaden von 21% zur Folge haben. Zumeist erfolgte die VKMB uberraschend, da deutliche Warnzeichen fehlten. Bei mindestens 37% der Patienten wurden Krankheiten mit Cholostase festgestellt. Der Quickwert war in allen Fallen pathologisch erniedrigt. VK-abhangige Faktoren, wie F II, VII, IX und X, sowie Protein C waren in allen untersuchten Proben erniedrigt, PIVKA nachweisbar, wahrend VK-unabhangige Hamostase-Parameter im Normbereich oder sogar erhoht waren. Die Kombination von erniedrigtem Quickwert und normalem Fibrinogenspiegel und normaler Plattchenzahl macht die Diagnose wahrscheinlich, der Anstieg des Quickwertes nach VK, der schon nach 30 Minuten erfolgt, ist beweisend. Die VK-Prophylaxe reduziert die Inzidenz der VKMB von 5,13 pro 100000 Geburten auf ein Zehntel; die einmalige orale Prophylaxe vermag das Risiko um das 3,3fache zu reduzieren, die einmalig parenterale um das 14,3fache. Die parenterale Prophylaxe ist v.a. bei Patienten mit hepatobiliaren Grundkrankheiten wirksamer. Patienten, die trotz VK-Prophylaxe eine VKMB erleiden, haben ein hoheres Manifestationsalter (ohne Prophylaxe 32 Tage, mit oraler Prophylaxe 37 Tage, mit parenteraler Prophylaxe 63 Tage) und seltener intrakranielle Blutungen (35%) als Patienten ohne VK-Prophylaxe (62%). Schlusfolgerung Die Spatform der VKMB ist eine seltene aber schwere Erkrankung, die durch VK-Prophylaxe verhindert werden kann.

The thalidomide tragedy of the late 1950s clearly proved the need for caution, and questionable drug use should always be avoided. The teratogenic potential of a drug is related to dosage and time of administration. During blastogenesis, fetal death may occur; during embryogenesis, deformity may develop; and during the last trimester, functional anomalies or "covert embryopathy" may be seen. Finally, the benefit to risk ratio of every drug must be carefully weighed, and only those with proved safety to the feto-maternal unit should be prescribed. Aspirin may be administered to the pregnant woman as an anti-inflammatory agent but in the lowest therapeutic dosage. In the later stages of pregnancy, however, aspirin should be avoided since it may prolong labor, lead to greater blood loss during delivery, and increase the incidence of stillbirths. The pyrazolones, although not associated with teratogenic side effects, may lead to sometimes fatal agranulocytosis and, accordingly, are not recommended in pregnancy. Acetaminophen is the analgesic and antipyretic of choice during all phases of pregnancy.